Variants on interaction residues
KEGG pathway Name
hsa00010 Glycolysis / Gluconeogenesis
dbSNP Type Disease name
- Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
- Disease Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
- Disease Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]
- Disease Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
- Disease Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
rs1041969 Polymorphism -
rs104894009 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs121912707 Disease Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
rs121912711 Disease Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
rs121964925 Disease Bisphosphoglycerate mutase deficiency (BPGMD) [MIM:222800]
rs121964988 Disease Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
rs121964993 Disease Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
rs1229984 Polymorphism -
rs137852530 Polymorphism -
rs137852533 Disease Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]
rs137853258 Disease Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
rs147065275 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs148311934 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs17853396 Polymorphism -
rs193922272 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs193922297 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs2066702 Polymorphism -
rs28359542 Polymorphism -
rs28383586 Polymorphism -
rs28730628 Polymorphism -
rs35385902 Polymorphism -
rs398122379 Disease Hexokinase deficiency (HK deficiency) [MIM:235700]
rs5030621 Polymorphism -
rs671 Polymorphism -
rs751972865 Disease Bisphosphoglycerate mutase deficiency (BPGMD) [MIM:222800]
rs769268803 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs769724893 Polymorphism -
rs777954556 Disease Lactate dehydrogenase B deficiency (LDHBD) [MIM:614128]
rs80356655 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
hsa00020 Citrate cycle (TCA cycle)
dbSNP Type Disease name
- Disease Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
- Disease Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
rs121913499 Unclassified A glioma sample
rs121964988 Disease Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
rs121964993 Disease Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
rs137853258 Disease Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
rs28359542 Polymorphism -
rs28383586 Polymorphism -
rs28940589 Disease Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]
rs28940590 Disease Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]
hsa00030 Pentose phosphate pathway
dbSNP Type Disease name
- Disease Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
- Disease Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
rs137852316 Disease Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
rs137852325 Disease Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
rs137852329 Disease Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
rs137852349 Disease Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
rs137852543 Disease Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]
rs137852545 Disease Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]
rs137853582 Disease Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
rs138207257 Disease Hyperoxaluria primary 3 (HP3) [MIM:613616]
rs139382538 Disease Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
rs76645461 Disease Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
rs78478128 Disease Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
rs80338675 Disease ARTS syndrome (ARTS) [MIM:301835]
hsa00040 Pentose and glucuronate interconversions
dbSNP Type Disease name
- Disease 46,XY sex reversal 8 (SRXY8) [MIM:614279]
rs121912707 Disease Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
rs121912711 Disease Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
rs2234622 Polymorphism -
rs5054 Polymorphism -
rs5056 Polymorphism -
hsa00051 Fructose and mannose metabolism
dbSNP Type Disease name
- Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs104893643 Disease Fructosuria (FRUCT) [MIM:229800]
rs104893644 Disease Fructosuria (FRUCT) [MIM:229800]
rs148311934 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs193922297 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs398122379 Disease Hexokinase deficiency (HK deficiency) [MIM:235700]
rs5056 Polymorphism -
rs769268803 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs80356655 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
hsa00052 Galactose metabolism
dbSNP Type Disease name
- Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
- Disease Galactosemia II (GALCT2) [MIM:230200]
- Disease GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
- Disease GM1-gangliosidosis 2 (GM1G2) [MIM:230600]
- Disease GM1-gangliosidosis 3 (GM1G3) [MIM:230650]
- Disease Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]
- Disease Fabry disease (FD) [MIM:301500]
rs104894009 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs104894845 Unclassified -
rs111033648 Disease Galactosemia (GALCT) [MIM:230400]
rs111033669 Disease Galactosemia (GALCT) [MIM:230400]
rs111033715 Disease Galactosemia (GALCT) [MIM:230400]
rs111033720 Disease Galactosemia (GALCT) [MIM:230400]
rs111033802 Disease Galactosemia (GALCT) [MIM:230400]
rs111033808 Disease Galactosemia (GALCT) [MIM:230400]
rs111033809 Disease Galactosemia (GALCT) [MIM:230400]
rs111033810 Disease Galactosemia (GALCT) [MIM:230400]
rs111033832 Disease Galactosemia (GALCT) [MIM:230400]
rs113173389 Disease Fabry disease (FD) [MIM:301500]
rs121908047 Disease Epimerase-deficiency galactosemia (EDG) [MIM:230350]
rs137853860 Disease Epimerase-deficiency galactosemia (EDG) [MIM:230350]
rs137853861 Disease Epimerase-deficiency galactosemia (EDG) [MIM:230350]
rs148311934 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs193922272 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs193922297 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs28935192 Disease Fabry disease (FD) [MIM:301500]
rs367543259 Disease Galactosemia (GALCT) [MIM:230400]
rs375690568 Disease Galactosemia II (GALCT2) [MIM:230200]
rs398122379 Disease Hexokinase deficiency (HK deficiency) [MIM:235700]
rs5054 Polymorphism -
rs5056 Polymorphism -
rs727505292 Unclassified -
rs730880451 Disease Fabry disease (FD) [MIM:301500]
rs75391579 Disease Galactosemia (GALCT) [MIM:230400]
rs754967473 Disease Galactosemia II (GALCT2) [MIM:230200]
rs769268803 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs773416476 Polymorphism -
rs80356655 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
hsa00053 Ascorbate and aldarate metabolism
dbSNP Type Disease name
rs11509436 Polymorphism -
rs11509438 Polymorphism -
rs11509439 Polymorphism -
rs121912707 Disease Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
rs121912711 Disease Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
hsa00061 Fatty acid biosynthesis
dbSNP Type Disease name
rs2228307 Polymorphism -
hsa00062 Fatty acid elongation
dbSNP Type Disease name
rs11544658 Polymorphism -
rs120074140 Disease 3-ketothiolase deficiency (3KTD) [MIM:203750]
rs120074141 Disease 3-ketothiolase deficiency (3KTD) [MIM:203750]
rs120074145 Disease 3-ketothiolase deficiency (3KTD) [MIM:203750]
rs137853096 Disease D-bifunctional protein deficiency (DBPD) [MIM:261515]
rs137853101 Disease 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
rs137853102 Disease 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
hsa00071 Fatty acid degradation
dbSNP Type Disease name
- Disease Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
rs1041969 Polymorphism -
rs120074140 Disease 3-ketothiolase deficiency (3KTD) [MIM:203750]
rs120074141 Disease 3-ketothiolase deficiency (3KTD) [MIM:203750]
rs120074145 Disease 3-ketothiolase deficiency (3KTD) [MIM:203750]
rs121434275 Disease Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
rs121434278 Disease Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
rs121434279 Disease Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
rs121434281 Disease Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
rs121434283 Disease Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
rs121912707 Disease Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
rs121912711 Disease Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
rs1229984 Polymorphism -
rs137853096 Disease D-bifunctional protein deficiency (DBPD) [MIM:261515]
rs137853101 Disease 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
rs137853102 Disease 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
rs2066702 Polymorphism -
rs28730628 Polymorphism -
rs35385902 Polymorphism -
hsa00072 Synthesis and degradation of ketone bodies
dbSNP Type Disease name
- Disease Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050]
- Disease 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
rs120074141 Disease 3-ketothiolase deficiency (3KTD) [MIM:203750]
rs121909301 Disease Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050]
rs121909302 Disease Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050]
rs137852640 Disease 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911]
rs199587895 Disease 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
rs727503963 Disease 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
rs760106433 Disease 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
hsa00100 Steroid biosynthesis
dbSNP Type Disease name
rs11549147 Polymorphism -
rs864622780 Disease Cataract 44 (CTRCT44) [MIM:616509]
hsa00120 Primary bile acid biosynthesis
dbSNP Type Disease name
rs137853096 Disease D-bifunctional protein deficiency (DBPD) [MIM:261515]
rs137853101 Disease 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
rs137853102 Disease 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
hsa00130 Ubiquinone and other terpenoid-quinone biosynthesis
dbSNP Type Disease name
- Disease Tyrosinemia 3 (TYRSN3) [MIM:276710]
rs28934277 Disease Tyrosinemia 2 (TYRSN2) [MIM:276600]
rs28934278 Disease Tyrosinemia 3 (TYRSN3) [MIM:276710]
hsa00140 Steroid hormone biosynthesis
dbSNP Type Disease name
- Disease Glaucoma, primary open angle (POAG) [MIM:137760]
- Disease Adrenal hyperplasia 5 (AH5) [MIM:202110]
- Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
- Disease Ichthyosis, X-linked (IXL) [MIM:308100]
- Disease 46,XY sex reversal 8 (SRXY8) [MIM:614279]
rs104893628 Disease Glaucoma, primary open angle (POAG) [MIM:137760]
rs104893628 Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs104894135 Disease Adrenal hyperplasia 5 (AH5) [MIM:202110]
rs104894139 Disease Adrenal hyperplasia 5 (AH5) [MIM:202110]
rs104894140 Disease Adrenal hyperplasia 5 (AH5) [MIM:202110]
rs104894142 Disease Adrenal hyperplasia 5 (AH5) [MIM:202110]
rs104894146 Disease Adrenal hyperplasia 5 (AH5) [MIM:202110]
rs104894147 Disease Adrenal hyperplasia 5 (AH5) [MIM:202110]
rs104894149 Disease Adrenal hyperplasia 5 (AH5) [MIM:202110]
rs104894153 Disease Adrenal hyperplasia 5 (AH5) [MIM:202110]
rs11569681 Polymorphism -
rs11569705 Polymorphism -
rs121434534 Disease Aromatase deficiency (AROD) [MIM:613546]
rs121912978 Disease Corticosterone methyloxidase 2 deficiency (CMO-2 deficiency) [MIM:610600]
rs12721627 Polymorphism -
rs12721629 Polymorphism -
rs137853166 Disease Ichthyosis, X-linked (IXL) [MIM:308100]
rs137853167 Disease Ichthyosis, X-linked (IXL) [MIM:308100]
rs137853168 Disease Ichthyosis, X-linked (IXL) [MIM:308100]
rs148542782 Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs267606650 Disease Congenital bile acid synthesis defect 2 (CBAS2) [MIM:235555]
rs28371759 Polymorphism -
rs2854482 Polymorphism -
rs28936701 Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs3208363 Polymorphism -
rs4539 Polymorphism -
rs4986871 Polymorphism -
rs4986908 Polymorphism -
rs4986910 Polymorphism -
rs4987161 Polymorphism -
rs5312 Polymorphism -
rs5317 Polymorphism -
rs55785340 Polymorphism -
rs55901263 Polymorphism -
rs55951658 Polymorphism -
rs55989760 Disease Glaucoma, primary open angle (POAG) [MIM:137760]
rs55989760 Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs56324128 Polymorphism -
rs57865060 Disease Glaucoma, primary open angle (POAG) [MIM:137760]
rs57865060 Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs66583685 Disease Glaucoma, primary open angle (POAG) [MIM:137760]
rs67784355 Polymorphism -
rs72549378 Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs72552799 Polymorphism -
rs753847648 Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs777638364 Disease Adrenal hyperplasia 5 (AH5) [MIM:202110]
rs78310315 Disease Aromatase deficiency (AROD) [MIM:613546]
rs868208502 Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs9282670 Polymorphism -
rs9341248 Polymorphism -
rs9341250 Polymorphism -
hsa00220 Arginine biosynthesis
dbSNP Type Disease name
- Disease Argininemia (ARGIN) [MIM:207800]
- Disease Citrullinemia 1 (CTLN1) [MIM:215700]
- Disease Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
rs104893943 Disease Argininemia (ARGIN) [MIM:207800]
rs115014558 Polymorphism -
rs121908638 Disease Citrullinemia 1 (CTLN1) [MIM:215700]
rs121912592 Disease Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
rs13408961 Polymorphism -
rs140992177 Polymorphism -
rs180177155 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177156 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177157 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177173 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177197 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177225 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177244 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177264 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177290 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs34885252 Polymorphism -
rs369061090 Disease Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
rs371265106 Disease Citrullinemia 1 (CTLN1) [MIM:215700]
rs4426527 Polymorphism -
rs66550389 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
rs66626662 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
rs66642398 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
rs66867430 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
rs67156896 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
rs67501347 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
rs68026851 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
rs72554331 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
rs72554339 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
rs72554342 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
rs72554344 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
rs72558404 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
rs72558407 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
rs72558442 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
rs72558448 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
rs72558449 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
rs72558450 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
rs72558463 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
rs72558464 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
rs72558465 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
rs72558478 Disease Ornithine carbamoyltransferase deficiency (OTCD) [MIM:311250]
rs73106685 Polymorphism -
rs750670270 Disease Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
rs752339705 Disease Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
rs757205958 Disease Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
rs762387914 Disease Citrullinemia 1 (CTLN1) [MIM:215700]
rs771794639 Disease Citrullinemia 1 (CTLN1) [MIM:215700]
rs775163147 Disease Citrullinemia 1 (CTLN1) [MIM:215700]
rs775305020 Disease Citrullinemia 1 (CTLN1) [MIM:215700]
rs777233486 Disease Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
rs796052061 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs80358214 Disease Congenital systemic glutamine deficiency (CSGD) [MIM:610015]
hsa00230 Purine metabolism
dbSNP Type Disease name
- Disease Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR) [MIM:152950]
- Disease Cystic fibrosis (CF) [MIM:219700]
- Disease Lesch-Nyhan syndrome (LNS) [MIM:300322]
- Disease Gout HPRT-related (GOUT-HPRT) [MIM:300323]
- Disease Mental retardation, X-linked 102 (MRX102) [MIM:300958]
- Disease Menkes disease (MNKD) [MIM:309400]
- Disease Neuronopathy, distal hereditary motor, 6 (HMN6) [MIM:604320]
- Disease Noonan syndrome 3 (NS3) [MIM:609942]
- Disease Retinitis pigmentosa 33 (RP33) [MIM:610359]
- Disease Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723]
- Disease Striatal degeneration, autosomal dominant 2 (ADSD2) [MIM:616922]
- Disease Portal hypertension, non-cirrhotic (NCPH) [MIM:617068]
- Disease Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 (PEOB4) [MIM:617070]
rs104893631 Disease Mitochondrial DNA depletion syndrome 3 (MTDPS3) [MIM:251880]
rs104894227 Disease Costello syndrome (CSTLO) [MIM:218040]
rs104894228 Disease Schimmelpenning-Feuerstein-Mims syndrome (SFM) [MIM:163200]
rs104894230 Disease Costello syndrome (CSTLO) [MIM:218040]
rs104894359 Disease Noonan syndrome 3 (NS3) [MIM:609942]
rs104894364 Disease Noonan syndrome 3 (NS3) [MIM:609942]
rs104894365 Disease Noonan syndrome 3 (NS3) [MIM:609942]
rs104894452 Disease Purine nucleoside phosphorylase deficiency (PNPD) [MIM:613179]
rs104894506 Disease Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723]
rs11549976 Polymorphism -
rs121908724 Disease Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
rs121908725 Disease Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
rs121908759 Polymorphism -
rs121908951 Disease Brachyolmia type 4 with mild epiphyseal and metaphyseal changes (BCYM4) [MIM:612847]
rs121909009 Disease Cystic fibrosis (CF) [MIM:219700]
rs121909033 Disease Cystic fibrosis (CF) [MIM:219700]
rs121913240 Unclassified A colorectal cancer sample
rs121913527 Unclassified A colorectal cancer sample
rs121913528 Unclassified Bladder cancer
rs121913528 Disease Gastric cancer (GASC) [MIM:613659]
rs121913529 Unclassified A colorectal cancer sample
rs121913535 Polymorphism -
rs121917758 Disease Costello syndrome (CSTLO) [MIM:218040]
rs121917759 Disease Costello syndrome (CSTLO) [MIM:218040]
rs121917887 Polymorphism -
rs137852485 Disease Gout HPRT-related (GOUT-HPRT) [MIM:300323]
rs137852487 Disease Lesch-Nyhan syndrome (LNS) [MIM:300322]
rs137852488 Disease Lesch-Nyhan syndrome (LNS) [MIM:300322]
rs137852496 Disease Lesch-Nyhan syndrome (LNS) [MIM:300322]
rs137852498 Disease Gout HPRT-related (GOUT-HPRT) [MIM:300323]
rs137852543 Disease Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]
rs137852545 Disease Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]
rs17853396 Polymorphism -
rs1800089 Polymorphism -
rs267606635 Unclassified -
rs267606699 Disease Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
rs267606863 Disease Lesch-Nyhan syndrome (LNS) [MIM:300322]
rs28930970 Disease Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
rs28933406 Disease Thyroid cancer, non-medullary, 2 (NMTC2) [MIM:188470]
rs28999113 Disease Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723]
rs3218778 Polymorphism -
rs34082669 Polymorphism -
rs34354104 Polymorphism -
rs35698797 Polymorphism -
rs373458753 Disease Adenylosuccinase deficiency (ADSLD) [MIM:103050]
rs374259530 Disease Adenylosuccinase deficiency (ADSLD) [MIM:103050]
rs387906643 Disease Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR) [MIM:152950]
rs387907206 Disease Cardiofaciocutaneous syndrome 2 (CFC2) [MIM:615278]
rs397508195 Disease Cystic fibrosis (CF) [MIM:219700]
rs397508282 Disease Cystic fibrosis (CF) [MIM:219700]
rs397508288 Disease Cystic fibrosis (CF) [MIM:219700]
rs397508313 Disease Cystic fibrosis (CF) [MIM:219700]
rs397514452 Disease Hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300]
rs397514454 Disease Hypermethioninemia due to adenosine kinase deficiency (HMAKD) [MIM:614300]
rs397514469 Disease Acrodysostosis 2, with or without hormone resistance (ACRDYS2) [MIM:614613]
rs5757921 Polymorphism -
rs5832 Polymorphism -
rs5837 Polymorphism -
rs587777188 Disease Acrodysostosis 2, with or without hormone resistance (ACRDYS2) [MIM:614613]
rs587777861 Disease Epileptic encephalopathy, early infantile, 31 (EIEE31) [MIM:616346]
rs727503109 Disease Noonan syndrome 3 (NS3) [MIM:609942]
rs727503110 Disease Noonan syndrome 3 (NS3) [MIM:609942]
rs746930990 Unclassified -
rs747281324 Disease Bloom syndrome (BLM) [MIM:210900]
rs749246739 Disease Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
rs760270633 Disease Epileptic encephalopathy, early infantile, 31 (EIEE31) [MIM:616346]
rs770248150 Unclassified A colorectal cancer sample
rs780526529 Disease Cystic fibrosis (CF) [MIM:219700]
rs786204847 Disease Singleton-Merten syndrome 2 (SGMRT2) [MIM:616298]
rs786204848 Disease Singleton-Merten syndrome 2 (SGMRT2) [MIM:616298]
rs796052223 Disease Mental retardation, X-linked 102 (MRX102) [MIM:300958]
rs796052231 Disease Mental retardation, X-linked 102 (MRX102) [MIM:300958]
rs797045025 Disease Mental retardation, X-linked 102 (MRX102) [MIM:300958]
rs80338675 Disease ARTS syndrome (ARTS) [MIM:301835]
hsa00232 Caffeine metabolism
dbSNP Type Disease name
- Disease Glaucoma, primary open angle (POAG) [MIM:137760]
- Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs104893628 Disease Glaucoma, primary open angle (POAG) [MIM:137760]
rs104893628 Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs148542782 Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs28936701 Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs55989760 Disease Glaucoma, primary open angle (POAG) [MIM:137760]
rs55989760 Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs57865060 Disease Glaucoma, primary open angle (POAG) [MIM:137760]
rs57865060 Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs66583685 Disease Glaucoma, primary open angle (POAG) [MIM:137760]
rs669884 Polymorphism -
rs72549378 Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs753847648 Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs9341250 Polymorphism -
hsa00240 Pyrimidine metabolism
dbSNP Type Disease name
- Disease Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
- Disease Postaxial acrofacial dysostosis (POADS) [MIM:263750]
- Disease Interstitial nephritis, karyomegalic (KMIN) [MIM:614817]
rs104894452 Disease Purine nucleoside phosphorylase deficiency (PNPD) [MIM:613179]
rs121913037 Disease Mitochondrial DNA depletion syndrome 1, MNGIE type (MTDPS1) [MIM:603041]
rs121917887 Polymorphism -
rs149977726 Disease Mitochondrial DNA depletion syndrome 1, MNGIE type (MTDPS1) [MIM:603041]
rs150181226 Disease Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
rs17843776 Polymorphism -
rs267606699 Disease Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
rs267606700 Disease Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
rs3218778 Polymorphism -
rs34082669 Polymorphism -
rs34928857 Polymorphism -
rs397514599 Disease Deafness, autosomal recessive, 70 (DFNB70) [MIM:614934]
rs749246739 Disease Desbuquois dysplasia 1 (DBQD1) [MIM:251450]
rs751703979 Disease Interstitial nephritis, karyomegalic (KMIN) [MIM:614817]
hsa00250 Alanine, aspartate and glutamate metabolism
dbSNP Type Disease name
- Disease Citrullinemia 1 (CTLN1) [MIM:215700]
- Disease Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
- Disease Canavan disease (CAND) [MIM:271900]
- Disease Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
rs104894550 Disease Canavan disease (CAND) [MIM:271900]
rs104894551 Disease Canavan disease (CAND) [MIM:271900]
rs115014558 Polymorphism -
rs121908520 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs121908524 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs121908527 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs121908530 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs121908638 Disease Citrullinemia 1 (CTLN1) [MIM:215700]
rs121912592 Disease Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
rs13408961 Polymorphism -
rs137852937 Disease Hyperprolinemia 2 (HYRPRO2) [MIM:239510]
rs140992177 Polymorphism -
rs145087265 Disease Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
rs180177155 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177156 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177157 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177173 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177185 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177197 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177225 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177236 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177244 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177253 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177264 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177289 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177290 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs28940279 Disease Canavan disease (CAND) [MIM:271900]
rs34885252 Polymorphism -
rs369061090 Disease Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
rs371265106 Disease Citrullinemia 1 (CTLN1) [MIM:215700]
rs373458753 Disease Adenylosuccinase deficiency (ADSLD) [MIM:103050]
rs375628463 Disease Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
rs4426527 Polymorphism -
rs62621664 Polymorphism -
rs72552283 Disease Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
rs73106685 Polymorphism -
rs750670270 Disease Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
rs752339705 Disease Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
rs757205958 Disease Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
rs761064915 Disease Canavan disease (CAND) [MIM:271900]
rs762387914 Disease Citrullinemia 1 (CTLN1) [MIM:215700]
rs765561257 Disease Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
rs771794639 Disease Citrullinemia 1 (CTLN1) [MIM:215700]
rs774323189 Disease Canavan disease (CAND) [MIM:271900]
rs775163147 Disease Citrullinemia 1 (CTLN1) [MIM:215700]
rs775305020 Disease Citrullinemia 1 (CTLN1) [MIM:215700]
rs777233486 Disease Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
rs796052061 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs80358214 Disease Congenital systemic glutamine deficiency (CSGD) [MIM:610015]
hsa00260 Glycine, serine and threonine metabolism
dbSNP Type Disease name
- Disease Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
- Disease Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
rs1041969 Polymorphism -
rs104894036 Disease Phosphoserine phosphatase deficiency (PSPHD) [MIM:614023]
rs104894694 Disease Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
rs115014558 Polymorphism -
rs121908520 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs121908524 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs121908527 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs121908530 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs121912707 Disease Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
rs121912711 Disease Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
rs121964925 Disease Bisphosphoglycerate mutase deficiency (BPGMD) [MIM:222800]
rs121964988 Disease Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
rs121964993 Disease Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
rs1229984 Polymorphism -
rs13408961 Polymorphism -
rs140778208 Polymorphism -
rs140992177 Polymorphism -
rs142814307 Disease Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]
rs150338273 Polymorphism -
rs180177155 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177156 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177157 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177173 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177185 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177197 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177225 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177236 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177244 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177253 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177264 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177289 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177290 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs200833152 Polymorphism -
rs2066702 Polymorphism -
rs267606947 Disease Phosphoglycerate dehydrogenase deficiency (PHGDHD) [MIM:601815]
rs267606949 Disease Phosphoglycerate dehydrogenase deficiency (PHGDHD) [MIM:601815]
rs28730628 Polymorphism -
rs28941786 Disease Cystathioninuria (CSTNU) [MIM:219500]
rs34885252 Polymorphism -
rs35385902 Polymorphism -
rs372027428 Polymorphism -
rs376982466 Disease Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]
rs377578020 Disease Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]
rs4426527 Polymorphism -
rs73106685 Polymorphism -
rs751972865 Disease Bisphosphoglycerate mutase deficiency (BPGMD) [MIM:222800]
rs774144200 Disease Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
rs796052061 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs80338734 Disease Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
rs864321678 Disease Glycine N-methyltransferase deficiency (GNMT deficiency) [MIM:606664]
hsa00270 Cysteine and methionine metabolism
dbSNP Type Disease name
- Disease Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
rs121964963 Disease Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
rs121964966 Disease Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
rs121964968 Disease Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
rs267607076 Disease X-linked syndromic mental retardation Snyder-Robinson type (MRXSSR) [MIM:309583]
rs28941786 Disease Cystathioninuria (CSTNU) [MIM:219500]
rs373782713 Disease Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
rs5030621 Polymorphism -
rs755106884 Disease Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
rs755952006 Disease Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
rs758236584 Disease Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
rs777954556 Disease Lactate dehydrogenase B deficiency (LDHBD) [MIM:614128]
hsa00280 Valine, leucine and isoleucine degradation
dbSNP Type Disease name
- Disease 3-ketothiolase deficiency (3KTD) [MIM:203750]
- Disease Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050]
- Disease 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
- Disease Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
rs1057204 Polymorphism -
rs120074140 Disease 3-ketothiolase deficiency (3KTD) [MIM:203750]
rs120074141 Disease 3-ketothiolase deficiency (3KTD) [MIM:203750]
rs120074146 Disease 3-ketothiolase deficiency (3KTD) [MIM:203750]
rs120074147 Disease 3-ketothiolase deficiency (3KTD) [MIM:203750]
rs121434275 Disease Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
rs121434278 Disease Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
rs121434279 Disease Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
rs121434281 Disease Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
rs121434283 Disease Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
rs121909301 Disease Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050]
rs121909302 Disease Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050]
rs121912707 Disease Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
rs121912711 Disease Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
rs121918329 Disease 3-hydroxyisobutryl-CoA hydrolase deficiency (HIBCHD) [MIM:250620]
rs121964988 Disease Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
rs121964993 Disease Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
rs137852640 Disease 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911]
rs137853096 Disease D-bifunctional protein deficiency (DBPD) [MIM:261515]
rs137853101 Disease 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
rs137853102 Disease 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
rs141786030 Polymorphism -
rs148639841 Disease 3-ketothiolase deficiency (3KTD) [MIM:203750]
rs182923857 Disease Maple syrup urine disease 1A (MSUD1A) [MIM:248600]
rs199587895 Disease 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
rs398123503 Disease Maple syrup urine disease 1A (MSUD1A) [MIM:248600]
rs56199635 Polymorphism -
rs727503963 Disease 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
rs760106433 Disease 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
rs769688327 Disease Maple syrup urine disease 1A (MSUD1A) [MIM:248600]
rs769894315 Disease 3-methylglutaconic aciduria 1 (MGA1) [MIM:250950]
rn00281 Geraniol degradation
dbSNP Type Disease name
rs137853096 Disease D-bifunctional protein deficiency (DBPD) [MIM:261515]
rs137853101 Disease 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
rs137853102 Disease 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
hsa00290 Valine, leucine and isoleucine biosynthesis
dbSNP Type Disease name
rs1057204 Polymorphism -
hsa00300 Lysine biosynthesis
dbSNP Type Disease name
rs121912707 Disease Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
rs121912711 Disease Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
hsa00310 Lysine degradation
dbSNP Type Disease name
- Disease Sotos syndrome 1 (SOTOS1) [MIM:117550]
rs120074141 Disease 3-ketothiolase deficiency (3KTD) [MIM:203750]
rs121912707 Disease Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
rs121912711 Disease Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
rs137853096 Disease D-bifunctional protein deficiency (DBPD) [MIM:261515]
rs137853101 Disease 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
rs137853102 Disease 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
rs1740231 Polymorphism -
rs587784176 Disease Sotos syndrome 1 (SOTOS1) [MIM:117550]
rs797045825 Disease Sotos syndrome 1 (SOTOS1) [MIM:117550]
hsa00330 Arginine and proline metabolism
dbSNP Type Disease name
- Disease Argininemia (ARGIN) [MIM:207800]
- Disease Spastic paraplegia 9A, autosomal dominant (SPG9A) [MIM:601162]
- Disease Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
- Disease Spastic paraplegia 9B, autosomal recessive (SPG9B) [MIM:616586]
rs104893943 Disease Argininemia (ARGIN) [MIM:207800]
rs104894694 Disease Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
rs121434583 Disease Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150]
rs121912707 Disease Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
rs121912711 Disease Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
rs137852937 Disease Hyperprolinemia 2 (HYRPRO2) [MIM:239510]
rs138207257 Disease Hyperoxaluria primary 3 (HP3) [MIM:613616]
rs13894 Polymorphism -
rs139751598 Disease Cutis laxa, autosomal recessive, 2B (ARCL2B) [MIM:612940]
rs140778208 Polymorphism -
rs142814307 Disease Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]
rs150338273 Polymorphism -
rs200833152 Polymorphism -
rs202225656 Polymorphism -
rs267607076 Disease X-linked syndromic mental retardation Snyder-Robinson type (MRXSSR) [MIM:309583]
rs372027428 Polymorphism -
rs374059924 Disease Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]
rs376982466 Disease Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]
rs377578020 Disease Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]
rs752669339 Disease Spastic paraplegia 9B, autosomal recessive (SPG9B) [MIM:616586]
rs774047299 Disease Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150]
rs774144200 Disease Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
rs80338734 Disease Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
rn00332 Carbapenem biosynthesis
dbSNP Type Disease name
- Disease Spastic paraplegia 9A, autosomal dominant (SPG9A) [MIM:601162]
- Disease Spastic paraplegia 9B, autosomal recessive (SPG9B) [MIM:616586]
rs121434583 Disease Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150]
rs752669339 Disease Spastic paraplegia 9B, autosomal recessive (SPG9B) [MIM:616586]
rs774047299 Disease Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150]
hsa00340 Histidine metabolism
dbSNP Type Disease name
- Disease Canavan disease (CAND) [MIM:271900]
- Disease Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
rs104894550 Disease Canavan disease (CAND) [MIM:271900]
rs104894551 Disease Canavan disease (CAND) [MIM:271900]
rs121912707 Disease Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
rs121912711 Disease Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
rs28940279 Disease Canavan disease (CAND) [MIM:271900]
rs758252808 Disease Mental retardation, autosomal recessive 51 (MRT51) [MIM:616739]
rs774323189 Disease Canavan disease (CAND) [MIM:271900]
rs777936704 Disease Canavan disease (CAND) [MIM:271900]
hsa00350 Tyrosine metabolism
dbSNP Type Disease name
- Disease Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
- Disease Tyrosinemia 3 (TYRSN3) [MIM:276710]
- Disease Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
rs1041969 Polymorphism -
rs1229984 Polymorphism -
rs145087265 Disease Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
rs2066702 Polymorphism -
rs267606760 Disease Dopamine beta-hydroxylase deficiency (DBH deficiency) [MIM:223360]
rs28730628 Polymorphism -
rs28934277 Disease Tyrosinemia 2 (TYRSN2) [MIM:276600]
rs28934278 Disease Tyrosinemia 3 (TYRSN3) [MIM:276710]
rs35097308 Polymorphism -
rs35385902 Polymorphism -
rs35643019 Polymorphism -
rs375628463 Disease Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
rs408038 Polymorphism -
rs438287 Polymorphism -
rs4986871 Polymorphism -
rs5319 Polymorphism -
rs5639 Polymorphism -
rs5641 Polymorphism -
rs62621664 Polymorphism -
rs72552283 Disease Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
rs765561257 Disease Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
hsa00360 Phenylalanine metabolism
dbSNP Type Disease name
- Disease Phenylketonuria (PKU) [MIM:261600]
- Disease Tyrosinemia 3 (TYRSN3) [MIM:276710]
- Disease Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
rs1041969 Polymorphism -
rs118203925 Disease Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
rs1229984 Polymorphism -
rs137853096 Disease D-bifunctional protein deficiency (DBPD) [MIM:261515]
rs137853101 Disease 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
rs137853102 Disease 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
rs199475567 Disease Phenylketonuria (PKU) [MIM:261600]
rs199475579 Disease Phenylketonuria (PKU) [MIM:261600]
rs199475580 Disease Phenylketonuria (PKU) [MIM:261600]
rs199475582 Disease Phenylketonuria (PKU) [MIM:261600]
rs199475598 Disease Hyperphenylalaninemia (HPA) [MIM:261600]
rs199475610 Disease Phenylketonuria (PKU) [MIM:261600]
rs199475643 Disease Hyperphenylalaninemia (HPA) [MIM:261600]
rs199475651 Disease Phenylketonuria (PKU) [MIM:261600]
rs2066702 Polymorphism -
rs28730628 Polymorphism -
rs28934278 Disease Tyrosinemia 3 (TYRSN3) [MIM:276710]
rs35385902 Polymorphism -
rs35670089 Polymorphism -
rs35702888 Polymorphism -
rs5030841 Disease Phenylketonuria (PKU) [MIM:261600]
rs5030842 Disease Phenylketonuria (PKU) [MIM:261600]
rs5030847 Disease Phenylketonuria (PKU) [MIM:261600]
rs5030851 Disease Phenylketonuria (PKU) [MIM:261600]
rs62507340 Disease Phenylketonuria (PKU) [MIM:261600]
rs62507347 Disease Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
rs62508578 Disease Phenylketonuria (PKU) [MIM:261600]
rs62508580 Disease Phenylketonuria (PKU) [MIM:261600]
rs62508588 Disease Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
rs62508694 Disease Phenylketonuria (PKU) [MIM:261600]
rs62508698 Disease Phenylketonuria (PKU) [MIM:261600]
rs62514902 Disease Phenylketonuria (PKU) [MIM:261600]
rs62516062 Disease Phenylketonuria (PKU) [MIM:261600]
rs62517181 Disease Phenylketonuria (PKU) [MIM:261600]
rs62635346 Disease Phenylketonuria (PKU) [MIM:261600]
rs62642916 Disease Phenylketonuria (PKU) [MIM:261600]
rs62642918 Disease Phenylketonuria (PKU) [MIM:261600]
rs62642930 Disease Phenylketonuria (PKU) [MIM:261600]
rs62642934 Disease Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
rs62642942 Disease Phenylketonuria (PKU) [MIM:261600]
rs62642944 Disease Phenylketonuria (PKU) [MIM:261600]
rs74503222 Disease Phenylketonuria (PKU) [MIM:261600]
rs74603784 Disease Phenylketonuria (PKU) [MIM:261600]
rs76394784 Disease Phenylketonuria (PKU) [MIM:261600]
rn00362 Benzoate degradation
dbSNP Type Disease name
rs1041969 Polymorphism -
rs120074141 Disease 3-ketothiolase deficiency (3KTD) [MIM:203750]
rs1229984 Polymorphism -
rs2066702 Polymorphism -
rs28730628 Polymorphism -
rs35385902 Polymorphism -
hsa00380 Tryptophan metabolism
dbSNP Type Disease name
- Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
- Disease Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
rs104893628 Disease Glaucoma, primary open angle (POAG) [MIM:137760]
rs104893628 Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs120074141 Disease 3-ketothiolase deficiency (3KTD) [MIM:203750]
rs121912707 Disease Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
rs121912711 Disease Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
rs121918822 Polymorphism -
rs121918823 Polymorphism -
rs121918824 Polymorphism -
rs121964988 Disease Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
rs121964993 Disease Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
rs12721629 Polymorphism -
rs137853096 Disease D-bifunctional protein deficiency (DBPD) [MIM:261515]
rs137853101 Disease 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
rs137853102 Disease 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
rs148542782 Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs201316181 Polymorphism -
rs2302339 Polymorphism -
rs373339042 Polymorphism -
rs4986910 Polymorphism -
rs55951658 Polymorphism -
rs55989760 Disease Glaucoma, primary open angle (POAG) [MIM:137760]
rs55989760 Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs56800285 Polymorphism -
rs57865060 Disease Glaucoma, primary open angle (POAG) [MIM:137760]
rs57865060 Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs66583685 Disease Glaucoma, primary open angle (POAG) [MIM:137760]
rs67784355 Polymorphism -
rs6970210 Polymorphism -
rs72549378 Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs72552799 Polymorphism -
rs9282670 Polymorphism -
hsa00400 Phenylalanine, tyrosine and tryptophan biosynthesis
dbSNP Type Disease name
- Disease Phenylketonuria (PKU) [MIM:261600]
rs118203925 Disease Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
rs199475567 Disease Phenylketonuria (PKU) [MIM:261600]
rs199475579 Disease Phenylketonuria (PKU) [MIM:261600]
rs199475580 Disease Phenylketonuria (PKU) [MIM:261600]
rs199475582 Disease Phenylketonuria (PKU) [MIM:261600]
rs199475598 Disease Hyperphenylalaninemia (HPA) [MIM:261600]
rs199475610 Disease Phenylketonuria (PKU) [MIM:261600]
rs199475643 Disease Hyperphenylalaninemia (HPA) [MIM:261600]
rs199475651 Disease Phenylketonuria (PKU) [MIM:261600]
rs28934277 Disease Tyrosinemia 2 (TYRSN2) [MIM:276600]
rs5030841 Disease Phenylketonuria (PKU) [MIM:261600]
rs5030842 Disease Phenylketonuria (PKU) [MIM:261600]
rs5030847 Disease Phenylketonuria (PKU) [MIM:261600]
rs5030851 Disease Phenylketonuria (PKU) [MIM:261600]
rs62507340 Disease Phenylketonuria (PKU) [MIM:261600]
rs62507347 Disease Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
rs62508578 Disease Phenylketonuria (PKU) [MIM:261600]
rs62508580 Disease Phenylketonuria (PKU) [MIM:261600]
rs62508588 Disease Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
rs62508694 Disease Phenylketonuria (PKU) [MIM:261600]
rs62508698 Disease Phenylketonuria (PKU) [MIM:261600]
rs62514902 Disease Phenylketonuria (PKU) [MIM:261600]
rs62516062 Disease Phenylketonuria (PKU) [MIM:261600]
rs62517181 Disease Phenylketonuria (PKU) [MIM:261600]
rs62635346 Disease Phenylketonuria (PKU) [MIM:261600]
rs62642916 Disease Phenylketonuria (PKU) [MIM:261600]
rs62642918 Disease Phenylketonuria (PKU) [MIM:261600]
rs62642930 Disease Phenylketonuria (PKU) [MIM:261600]
rs62642934 Disease Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
rs62642942 Disease Phenylketonuria (PKU) [MIM:261600]
rs62642944 Disease Phenylketonuria (PKU) [MIM:261600]
rs74503222 Disease Phenylketonuria (PKU) [MIM:261600]
rs74603784 Disease Phenylketonuria (PKU) [MIM:261600]
rs76394784 Disease Phenylketonuria (PKU) [MIM:261600]
rn00401 Novobiocin biosynthesis
dbSNP Type Disease name
rs28934277 Disease Tyrosinemia 2 (TYRSN2) [MIM:276600]
hsa00410 beta-Alanine metabolism
dbSNP Type Disease name
- Disease Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
rs121434275 Disease Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
rs121434278 Disease Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
rs121434279 Disease Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
rs121434281 Disease Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
rs121434283 Disease Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
rs121912707 Disease Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
rs121912711 Disease Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
rs121918329 Disease 3-hydroxyisobutryl-CoA hydrolase deficiency (HIBCHD) [MIM:250620]
rs267607076 Disease X-linked syndromic mental retardation Snyder-Robinson type (MRXSSR) [MIM:309583]
rs35097308 Polymorphism -
hsa00430 Taurine and hypotaurine metabolism
dbSNP Type Disease name
rs1288775 Polymorphism -
rs147804855 Disease Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]
rs16986465 Polymorphism -
rs376335787 Unclassified -
rs377578020 Disease Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]
hsa00450 Selenocompound metabolism
dbSNP Type Disease name
rs28941786 Disease Cystathioninuria (CSTNU) [MIM:219500]
rs56350236 Polymorphism -
rn00460 Cyanoamino acid metabolism
dbSNP Type Disease name
rs17004876 Polymorphism -
hsa00480 Glutathione metabolism
dbSNP Type Disease name
- Disease Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
- Disease Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
rs1052661 Polymorphism -
rs11509436 Polymorphism -
rs11509438 Polymorphism -
rs11509439 Polymorphism -
rs121909308 Disease Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
rs121913499 Unclassified A glioma sample
rs137852316 Disease Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
rs137852325 Disease Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
rs137852329 Disease Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
rs137852349 Disease Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
rs1695 Polymorphism -
rs17004876 Polymorphism -
rs2330837 Polymorphism -
rs2330838 Polymorphism -
rs267607076 Disease X-linked syndromic mental retardation Snyder-Robinson type (MRXSSR) [MIM:309583]
rs28938472 Disease Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
rs3895576 Polymorphism -
rs449856 Polymorphism -
rs45529437 Polymorphism -
rs76201145 Polymorphism -
rs76645461 Disease Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
rs78478128 Disease Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
rs8177445 Polymorphism -
rs8190955 Polymorphism -
rs8190997 Polymorphism -
hsa00500 Starch and sucrose metabolism
dbSNP Type Disease name
- Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
- Disease Interstitial nephritis, karyomegalic (KMIN) [MIM:614817]
rs104894009 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs113993976 Disease Glycogen storage disease 6 (GSD6) [MIM:232700]
rs113993977 Disease Glycogen storage disease 6 (GSD6) [MIM:232700]
rs147065275 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs148311934 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs193922272 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs193922297 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs398122379 Disease Hexokinase deficiency (HK deficiency) [MIM:235700]
rs751703979 Disease Interstitial nephritis, karyomegalic (KMIN) [MIM:614817]
rs769268803 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs80356655 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rn00513 Various types of N-glycan biosynthesis
dbSNP Type Disease name
- Disease GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
rs1054374 Polymorphism -
rs199578185 Disease GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
hsa00520 Amino sugar and nucleotide sugar metabolism
dbSNP Type Disease name
- Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
- Disease Galactosemia II (GALCT2) [MIM:230200]
- Disease GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
- Disease Nonaka myopathy (NM) [MIM:605820]
rs104894009 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs1054374 Polymorphism -
rs111033648 Disease Galactosemia (GALCT) [MIM:230400]
rs111033669 Disease Galactosemia (GALCT) [MIM:230400]
rs111033715 Disease Galactosemia (GALCT) [MIM:230400]
rs111033720 Disease Galactosemia (GALCT) [MIM:230400]
rs111033802 Disease Galactosemia (GALCT) [MIM:230400]
rs111033808 Disease Galactosemia (GALCT) [MIM:230400]
rs111033809 Disease Galactosemia (GALCT) [MIM:230400]
rs111033810 Disease Galactosemia (GALCT) [MIM:230400]
rs111033832 Disease Galactosemia (GALCT) [MIM:230400]
rs121908047 Disease Epimerase-deficiency galactosemia (EDG) [MIM:230350]
rs121908633 Disease Nonaka myopathy (NM) [MIM:605820]
rs137853860 Disease Epimerase-deficiency galactosemia (EDG) [MIM:230350]
rs137853861 Disease Epimerase-deficiency galactosemia (EDG) [MIM:230350]
rs148311934 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs193922272 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs193922297 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs199578185 Disease GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
rs367543259 Disease Galactosemia (GALCT) [MIM:230400]
rs375690568 Disease Galactosemia II (GALCT2) [MIM:230200]
rs398122379 Disease Hexokinase deficiency (HK deficiency) [MIM:235700]
rs75391579 Disease Galactosemia (GALCT) [MIM:230400]
rs754967473 Disease Galactosemia II (GALCT2) [MIM:230200]
rs769268803 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs773416476 Polymorphism -
rs779694939 Disease Nonaka myopathy (NM) [MIM:605820]
rs80356655 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rn00521 Streptomycin biosynthesis
dbSNP Type Disease name
- Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs104894009 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs147065275 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs148311934 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs193922272 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs193922297 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs398122379 Disease Hexokinase deficiency (HK deficiency) [MIM:235700]
rs769268803 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs80356655 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
hsa00524 Neomycin, kanamycin and gentamicin biosynthesis
dbSNP Type Disease name
- Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs104894009 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs147065275 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs148311934 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs193922272 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs193922297 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs398122379 Disease Hexokinase deficiency (HK deficiency) [MIM:235700]
rs769268803 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs80356655 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
hsa00531 Glycosaminoglycan degradation
dbSNP Type Disease name
- Disease GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
- Disease GM1-gangliosidosis 2 (GM1G2) [MIM:230600]
- Disease GM1-gangliosidosis 3 (GM1G3) [MIM:230650]
- Disease Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]
- Disease GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
- Disease Mucopolysaccharidosis 1H (MPS1H) [MIM:607014]
- Disease Mucopolysaccharidosis 1S (MPS1S) [MIM:607016]
rs1054374 Polymorphism -
rs199578185 Disease GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
rs558683362 Disease Mucopolysaccharidosis 1H (MPS1H) [MIM:607014]
rs750496798 Disease Mucopolysaccharidosis 1H/S (MPS1H/S) [MIM:607015]
rs754154200 Disease Mucopolysaccharidosis 1H (MPS1H) [MIM:607014]
rs754966840 Disease Mucopolysaccharidosis 1S (MPS1S) [MIM:607016]
rs794726877 Disease Mucopolysaccharidosis 1H (MPS1H) [MIM:607014]
hsa00561 Glycerolipid metabolism
dbSNP Type Disease name
- Disease Fabry disease (FD) [MIM:301500]
rs104894845 Unclassified -
rs113173389 Disease Fabry disease (FD) [MIM:301500]
rs121912707 Disease Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
rs121912711 Disease Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
rs5054 Polymorphism -
rs5056 Polymorphism -
rs727505292 Unclassified -
rs730880451 Disease Fabry disease (FD) [MIM:301500]
hsa00562 Inositol phosphate metabolism
dbSNP Type Disease name
rs137853842 Disease Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
rs137853846 Disease Dent disease 2 (DD2) [MIM:300555]
rs137853848 Disease Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
rs137853852 Disease Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
rs137853853 Disease Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
rs137853856 Disease Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
rs137853857 Disease Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
rs863225460 Disease Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP) [MIM:602501]
hsa00564 Glycerophospholipid metabolism
dbSNP Type Disease name
- Disease Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
rs121912819 Disease Myasthenic syndrome, congenital, 6, presynaptic (CMS6) [MIM:254210]
rs121918558 Disease Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
rs201820739 Disease Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
rs2232202 Polymorphism -
rs370077923 Disease Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
rs531738678 Disease Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
rs747598704 Disease Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
rs770337031 Disease Butyrylcholinesterase deficiency (BChE deficiency) [MIM:177400]
hsa00565 Ether lipid metabolism
dbSNP Type Disease name
rs1051931 Polymorphism -
rs45454695 Polymorphism -
hsa00590 Arachidonic acid metabolism
dbSNP Type Disease name
- Disease 46,XY sex reversal 8 (SRXY8) [MIM:614279]
rs1056892 Polymorphism -
rs121434480 Disease Cranioosteoarthropathy (COA) [MIM:259100]
rs121434481 Disease Isolated congenital nail clubbing (ICNC) [MIM:119900]
rs17004876 Polymorphism -
rs17878459 Polymorphism -
rs17884712 Polymorphism -
rs17885179 Polymorphism -
rs188934928 Polymorphism -
rs192154563 Polymorphism -
rs2835285 Polymorphism -
rs28399505 Polymorphism -
rs3758581 Polymorphism -
rs41291556 Polymorphism -
rs56337013 Polymorphism -
rs7225107 Polymorphism -
rs797044460 Disease 46,XY sex reversal 8 (SRXY8) [MIM:614279]
rs8177445 Polymorphism -
hsa00591 Linoleic acid metabolism
dbSNP Type Disease name
- Disease Glaucoma, primary open angle (POAG) [MIM:137760]
- Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs1041988 Polymorphism -
rs104893628 Disease Glaucoma, primary open angle (POAG) [MIM:137760]
rs104893628 Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs104893629 Disease Glaucoma, primary open angle (POAG) [MIM:137760]
rs104893629 Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs12721627 Polymorphism -
rs12721629 Polymorphism -
rs17878459 Polymorphism -
rs17884712 Polymorphism -
rs17885179 Polymorphism -
rs188934928 Polymorphism -
rs192154563 Polymorphism -
rs28371759 Polymorphism -
rs28936701 Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs3208363 Polymorphism -
rs3758581 Polymorphism -
rs41291556 Polymorphism -
rs4986908 Polymorphism -
rs4986910 Polymorphism -
rs4987161 Polymorphism -
rs55785340 Polymorphism -
rs55951658 Polymorphism -
rs56324128 Polymorphism -
rs56337013 Polymorphism -
rs57865060 Disease Glaucoma, primary open angle (POAG) [MIM:137760]
rs57865060 Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs67784355 Polymorphism -
rs7225107 Polymorphism -
rs72549378 Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs72552799 Polymorphism -
rs753847648 Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs9282670 Polymorphism -
rs9341250 Polymorphism -
hsa00592 alpha-Linolenic acid metabolism
dbSNP Type Disease name
rs1041969 Polymorphism -
rs1229984 Polymorphism -
rs137853096 Disease D-bifunctional protein deficiency (DBPD) [MIM:261515]
rs137853101 Disease 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
rs137853102 Disease 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
rs2066702 Polymorphism -
rs28730628 Polymorphism -
rs35385902 Polymorphism -
hsa00600 Sphingolipid metabolism
dbSNP Type Disease name
- Disease GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
- Disease GM1-gangliosidosis 2 (GM1G2) [MIM:230600]
- Disease GM1-gangliosidosis 3 (GM1G3) [MIM:230650]
- Disease Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]
- Disease Fabry disease (FD) [MIM:301500]
rs104894845 Unclassified -
rs113173389 Disease Fabry disease (FD) [MIM:301500]
rs727505292 Unclassified -
rs730880451 Disease Fabry disease (FD) [MIM:301500]
rs77369218 Disease Gaucher disease (GD) [MIM:230800]
hsa00603 Glycosphingolipid biosynthesis - globo and isoglobo series
dbSNP Type Disease name
- Disease Fabry disease (FD) [MIM:301500]
rs104894845 Unclassified -
rs113173389 Disease Fabry disease (FD) [MIM:301500]
rs727505292 Unclassified -
rs730880451 Disease Fabry disease (FD) [MIM:301500]
hsa00604 Glycosphingolipid biosynthesis - ganglio series
dbSNP Type Disease name
- Disease GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
- Disease GM1-gangliosidosis 2 (GM1G2) [MIM:230600]
- Disease GM1-gangliosidosis 3 (GM1G3) [MIM:230650]
- Disease Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]
hsa00620 Pyruvate metabolism
dbSNP Type Disease name
- Disease Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
- Disease Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
- Disease Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
rs1041969 Polymorphism -
rs120074141 Disease 3-ketothiolase deficiency (3KTD) [MIM:203750]
rs121912707 Disease Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
rs121912711 Disease Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
rs121964988 Disease Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
rs121964993 Disease Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
rs1229984 Polymorphism -
rs137853258 Disease Pyruvate dehydrogenase E1-alpha deficiency (PDHAD) [MIM:312170]
rs16952692 Polymorphism -
rs17853396 Polymorphism -
rs17855424 Polymorphism -
rs2066702 Polymorphism -
rs28359542 Polymorphism -
rs28383586 Polymorphism -
rs28730628 Polymorphism -
rs28940589 Disease Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]
rs28940590 Disease Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]
rs35385902 Polymorphism -
rs5030621 Polymorphism -
rs671 Polymorphism -
rs769724893 Polymorphism -
rs777954556 Disease Lactate dehydrogenase B deficiency (LDHBD) [MIM:614128]
rn00621 Dioxin degradation
dbSNP Type Disease name
rs1041969 Polymorphism -
rs1229984 Polymorphism -
rs2066702 Polymorphism -
rs28730628 Polymorphism -
rs35385902 Polymorphism -
rn00622 Xylene degradation
dbSNP Type Disease name
rs1041969 Polymorphism -
rs1229984 Polymorphism -
rs2066702 Polymorphism -
rs28730628 Polymorphism -
rs35385902 Polymorphism -
rn00623 Toluene degradation
dbSNP Type Disease name
rs137853096 Disease D-bifunctional protein deficiency (DBPD) [MIM:261515]
rs137853101 Disease 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
rs137853102 Disease 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
rn00625 Chloroalkane and chloroalkene degradation
dbSNP Type Disease name
rs1041969 Polymorphism -
rs121912707 Disease Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
rs121912711 Disease Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
rs1229984 Polymorphism -
rs2066702 Polymorphism -
rs28730628 Polymorphism -
rs35385902 Polymorphism -
rs72473930 Polymorphism -
rs751141 Polymorphism -
rn00626 Naphthalene degradation
dbSNP Type Disease name
rs1041969 Polymorphism -
rs1229984 Polymorphism -
rs2066702 Polymorphism -
rs28730628 Polymorphism -
rs35385902 Polymorphism -
rn00627 Aminobenzoate degradation
dbSNP Type Disease name
rs1048988 Polymorphism -
rs1048994 Polymorphism -
hsa00630 Glyoxylate and dicarboxylate metabolism
dbSNP Type Disease name
- Disease Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
- Disease Canavan disease (CAND) [MIM:271900]
rs104894550 Disease Canavan disease (CAND) [MIM:271900]
rs104894551 Disease Canavan disease (CAND) [MIM:271900]
rs115014558 Polymorphism -
rs120074141 Disease 3-ketothiolase deficiency (3KTD) [MIM:203750]
rs121908520 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs121908524 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs121908527 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs121908530 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs121964988 Disease Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
rs121964993 Disease Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
rs13408961 Polymorphism -
rs138207257 Disease Hyperoxaluria primary 3 (HP3) [MIM:613616]
rs140992177 Polymorphism -
rs180177155 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177156 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177157 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177173 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177185 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177197 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177225 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177236 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177244 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177253 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177264 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177289 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177290 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs28940279 Disease Canavan disease (CAND) [MIM:271900]
rs34885252 Polymorphism -
rs4426527 Polymorphism -
rs73106685 Polymorphism -
rs774323189 Disease Canavan disease (CAND) [MIM:271900]
rs777936704 Disease Canavan disease (CAND) [MIM:271900]
rs796052061 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs80358214 Disease Congenital systemic glutamine deficiency (CSGD) [MIM:610015]
rn00633 Nitrotoluene degradation
dbSNP Type Disease name
rs1799931 Polymorphism -
rs4986996 Polymorphism -
rs56387565 Polymorphism -
hsa00640 Propanoate metabolism
dbSNP Type Disease name
- Disease Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
rs120074141 Disease 3-ketothiolase deficiency (3KTD) [MIM:203750]
rs121918329 Disease 3-hydroxyisobutryl-CoA hydrolase deficiency (HIBCHD) [MIM:250620]
rs121964988 Disease Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
rs121964993 Disease Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
rs5030621 Polymorphism -
rs777954556 Disease Lactate dehydrogenase B deficiency (LDHBD) [MIM:614128]
rn00643 Styrene degradation
dbSNP Type Disease name
- Disease Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
hsa00650 Butanoate metabolism
dbSNP Type Disease name
- Disease Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050]
- Disease 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
- Disease Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
rs1041969 Polymorphism -
rs120074141 Disease 3-ketothiolase deficiency (3KTD) [MIM:203750]
rs121434275 Disease Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
rs121434278 Disease Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
rs121434279 Disease Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
rs121434281 Disease Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
rs121434283 Disease Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
rs121909301 Disease Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050]
rs121909302 Disease Succinyl-CoA:3-oxoacid CoA transferase deficiency (SCOTD) [MIM:245050]
rs1229984 Polymorphism -
rs137852640 Disease 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911]
rs137853096 Disease D-bifunctional protein deficiency (DBPD) [MIM:261515]
rs137853101 Disease 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
rs137853102 Disease 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
rs145087265 Disease Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
rs199587895 Disease 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
rs2066702 Polymorphism -
rs28730628 Polymorphism -
rs35385902 Polymorphism -
rs375628463 Disease Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
rs4586421 Polymorphism -
rs5002299 Polymorphism -
rs62621664 Polymorphism -
rs72552283 Disease Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
rs727503963 Disease 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
rs760106433 Disease 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
rs765561257 Disease Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
hsa00670 One carbon pool by folate
dbSNP Type Disease name
rs1950902 Polymorphism -
rs34181110 Disease Neural tube defects, folate-sensitive (NTDFS) [MIM:601634]
rs387906619 Disease Megaloblastic anemia due to dihydrofolate reductase deficiency (DHFRD) [MIM:613839]
rn00680 Methane metabolism
dbSNP Type Disease name
rs1041969 Polymorphism -
rs104894036 Disease Phosphoserine phosphatase deficiency (PSPHD) [MIM:614023]
rs115014558 Polymorphism -
rs121908520 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs121908524 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs121908527 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs121908530 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs121964925 Disease Bisphosphoglycerate mutase deficiency (BPGMD) [MIM:222800]
rs1229984 Polymorphism -
rs13408961 Polymorphism -
rs140992177 Polymorphism -
rs180177155 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177156 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177157 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177173 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177185 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177197 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177225 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177236 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177244 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177253 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177264 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177289 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177290 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs2066702 Polymorphism -
rs267606947 Disease Phosphoglycerate dehydrogenase deficiency (PHGDHD) [MIM:601815]
rs267606949 Disease Phosphoglycerate dehydrogenase deficiency (PHGDHD) [MIM:601815]
rs28730628 Polymorphism -
rs34885252 Polymorphism -
rs35385902 Polymorphism -
rs4426527 Polymorphism -
rs73106685 Polymorphism -
rs751972865 Disease Bisphosphoglycerate mutase deficiency (BPGMD) [MIM:222800]
rs796052061 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rn00710 Carbon fixation in photosynthetic organisms
dbSNP Type Disease name
- Disease Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]
rs115014558 Polymorphism -
rs13408961 Polymorphism -
rs137852530 Polymorphism -
rs137852533 Disease Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]
rs140992177 Polymorphism -
rs16952692 Polymorphism -
rs180177155 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177156 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177157 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177173 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177197 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177225 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177244 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177264 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177290 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs34885252 Polymorphism -
rs4426527 Polymorphism -
rs73106685 Polymorphism -
rs796052061 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rn00720 Carbon fixation pathways in prokaryotes
dbSNP Type Disease name
rs120074141 Disease 3-ketothiolase deficiency (3KTD) [MIM:203750]
rs121913499 Unclassified A glioma sample
rs137853096 Disease D-bifunctional protein deficiency (DBPD) [MIM:261515]
rs137853101 Disease 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
rs137853102 Disease 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
rs1950902 Polymorphism -
rs28940589 Disease Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]
rs28940590 Disease Pyruvate carboxylase deficiency (PC deficiency) [MIM:266150]
rs34181110 Disease Neural tube defects, folate-sensitive (NTDFS) [MIM:601634]
hsa00730 Thiamine metabolism
dbSNP Type Disease name
rs371271054 Disease Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type (THMD5) [MIM:614458]
hsa00740 Riboflavin metabolism
dbSNP Type Disease name
- Disease Interstitial nephritis, karyomegalic (KMIN) [MIM:614817]
rs1050916 Polymorphism -
rs751703979 Disease Interstitial nephritis, karyomegalic (KMIN) [MIM:614817]
hsa00760 Nicotinate and nicotinamide metabolism
dbSNP Type Disease name
- Disease Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
- Disease Leber congenital amaurosis 9 (LCA9) [MIM:608553]
- Disease Interstitial nephritis, karyomegalic (KMIN) [MIM:614817]
rs104894452 Disease Purine nucleoside phosphorylase deficiency (PNPD) [MIM:613179]
rs138613460 Disease Leber congenital amaurosis 9 (LCA9) [MIM:608553]
rs145087265 Disease Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
rs370273690 Disease Glucocorticoid deficiency 4 (GCCD4) [MIM:614736]
rs375628463 Disease Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
rs387907234 Disease Glucocorticoid deficiency 4 (GCCD4) [MIM:614736]
rs387907291 Disease Leber congenital amaurosis 9 (LCA9) [MIM:608553]
rs387907293 Disease Leber congenital amaurosis 9 (LCA9) [MIM:608553]
rs62621664 Polymorphism -
rs72552283 Disease Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
rs751703979 Disease Interstitial nephritis, karyomegalic (KMIN) [MIM:614817]
rs761948762 Disease Leber congenital amaurosis 9 (LCA9) [MIM:608553]
rs763325435 Disease Leber congenital amaurosis 9 (LCA9) [MIM:608553]
rs765561257 Disease Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
rs771336246 Disease Leber congenital amaurosis 9 (LCA9) [MIM:608553]
rs864309721 Disease Takenouchi-Kosaki syndrome (TKS) [MIM:616737]
hsa00770 Pantothenate and CoA biosynthesis
dbSNP Type Disease name
- Disease Interstitial nephritis, karyomegalic (KMIN) [MIM:614817]
rs45523444 Polymorphism -
rs45562238 Polymorphism -
rs45624336 Polymorphism -
rs751703979 Disease Interstitial nephritis, karyomegalic (KMIN) [MIM:614817]
hsa00790 Folate biosynthesis
dbSNP Type Disease name
- Disease Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640]
rs1048994 Polymorphism -
rs11545078 Polymorphism -
rs121908605 Disease Molybdenum cofactor deficiency, complementation group B (MOCODB) [MIM:252160]
rs2233213 Polymorphism -
rs2233215 Polymorphism -
rs2233218 Polymorphism -
rs387906619 Disease Megaloblastic anemia due to dihydrofolate reductase deficiency (DHFRD) [MIM:613839]
hsa00830 Retinol metabolism
dbSNP Type Disease name
rs1041969 Polymorphism -
rs1229984 Polymorphism -
rs12721627 Polymorphism -
rs12721629 Polymorphism -
rs141786030 Polymorphism -
rs17878459 Polymorphism -
rs17884712 Polymorphism -
rs17885179 Polymorphism -
rs192154563 Polymorphism -
rs2066702 Polymorphism -
rs28371759 Polymorphism -
rs28730628 Polymorphism -
rs3208363 Polymorphism -
rs35385902 Polymorphism -
rs3758581 Polymorphism -
rs41291556 Polymorphism -
rs4986908 Polymorphism -
rs4986910 Polymorphism -
rs4987161 Polymorphism -
rs55785340 Polymorphism -
rs55951658 Polymorphism -
rs56199635 Polymorphism -
rs56324128 Polymorphism -
rs56337013 Polymorphism -
rs67784355 Polymorphism -
rs72552799 Polymorphism -
hsa00860 Porphyrin and chlorophyll metabolism
dbSNP Type Disease name
- Disease Hereditary coproporphyria (HCP) [MIM:121300]
- Disease Hepatoerythropoietic porphyria (HEP) [MIM:176100]
- Disease Congenital erythropoietic porphyria (CEP) [MIM:263700]
rs1050916 Polymorphism -
rs11541962 Polymorphism -
rs11541963 Polymorphism -
rs12144752 Polymorphism -
rs121908014 Disease Congenital erythropoietic porphyria (CEP) [MIM:263700]
rs121908020 Disease Congenital erythropoietic porphyria (CEP) [MIM:263700]
rs121908021 Disease Congenital erythropoietic porphyria (CEP) [MIM:263700]
rs121917868 Disease Hereditary coproporphyria (HCP) [MIM:121300]
rs121917874 Disease Hereditary coproporphyria (HCP) [MIM:121300]
rs121918058 Disease Familial porphyria cutanea tarda (FPCT) [MIM:176100]
rs121918063 Disease Familial porphyria cutanea tarda (FPCT) [MIM:176100]
rs139388833 Disease Congenital erythropoietic porphyria (CEP) [MIM:263700]
rs17153561 Polymorphism -
rs17173752 Polymorphism -
rs17880805 Polymorphism -
rs17884623 Polymorphism -
rs28929486 Disease Hereditary coproporphyria (HCP) [MIM:121300]
rs28941774 Disease Congenital erythropoietic porphyria (CEP) [MIM:263700]
rs28941775 Disease Congenital erythropoietic porphyria (CEP) [MIM:263700]
rs28941784 Polymorphism -
rs376128990 Disease Methylmalonic aciduria type cblB (MMAB) [MIM:251110]
rs397515528 Disease Congenital erythropoietic porphyria (CEP) [MIM:263700]
rs5030752 Polymorphism -
rs749758687 Disease Methylmalonic aciduria type cblB (MMAB) [MIM:251110]
rs762617943 Disease Familial porphyria cutanea tarda (FPCT) [MIM:176100]
rs767029901 Disease Congenital erythropoietic porphyria (CEP) [MIM:263700]
rs769378741 Disease Hepatoerythropoietic porphyria (HEP) [MIM:176100]
rs777433697 Disease Congenital erythropoietic porphyria (CEP) [MIM:263700]
hsa00900 Terpenoid backbone biosynthesis
dbSNP Type Disease name
- Disease Porokeratosis 3, multiple types (POROK3) [MIM:175900]
rs104895297 Disease Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
rs104895298 Disease Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
rs104895301 Disease Porokeratosis 3, multiple types (POROK3) [MIM:175900]
rs104895301 Disease Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
rs104895314 Disease Mevalonic aciduria (MEVA) [MIM:610377]
rs104895317 Disease Mevalonic aciduria (MEVA) [MIM:610377]
rs104895336 Disease Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
rs11614976 Polymorphism -
rs120074141 Disease 3-ketothiolase deficiency (3KTD) [MIM:203750]
rs137852640 Disease 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911]
rs5908 Polymorphism -
rs7957619 Polymorphism -
rs863225241 Disease Porokeratosis 9, multiple types (POROK9) [MIM:616631]
rn00902 Monoterpenoid biosynthesis
dbSNP Type Disease name
rs17878459 Polymorphism -
rs17884712 Polymorphism -
rs17885179 Polymorphism -
rs192154563 Polymorphism -
rs3758581 Polymorphism -
rs41291556 Polymorphism -
rs56337013 Polymorphism -
rn00903 Limonene and pinene degradation
dbSNP Type Disease name
rs121912707 Disease Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
rs121912711 Disease Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
rs17878459 Polymorphism -
rs17884712 Polymorphism -
rs17885179 Polymorphism -
rs192154563 Polymorphism -
rs28399505 Polymorphism -
rs3758581 Polymorphism -
rs41291556 Polymorphism -
rs56337013 Polymorphism -
rn00909 Sesquiterpenoid and triterpenoid biosynthesis
dbSNP Type Disease name
rs11549147 Polymorphism -
hsa00910 Nitrogen metabolism
dbSNP Type Disease name
- Disease Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
- Disease Osteopetrosis, autosomal recessive 3 (OPTB3) [MIM:259730]
rs118203933 Disease Osteopetrosis, autosomal recessive 3 (OPTB3) [MIM:259730]
rs121912592 Disease Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
rs369061090 Disease Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
rs750670270 Disease Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
rs752339705 Disease Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
rs757205958 Disease Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
rs777233486 Disease Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
rs80358214 Disease Congenital systemic glutamine deficiency (CSGD) [MIM:610015]
hsa00920 Sulfur metabolism
dbSNP Type Disease name
- Disease Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
rs121908951 Disease Brachyolmia type 4 with mild epiphyseal and metaphyseal changes (BCYM4) [MIM:612847]
rs121964963 Disease Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
rs121964966 Disease Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
rs121964968 Disease Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
rs28941785 Disease Cystathioninuria (CSTNU) [MIM:219500]
rs28941786 Disease Cystathioninuria (CSTNU) [MIM:219500]
rs373782713 Disease Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
rs755106884 Disease Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
rs755952006 Disease Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
rs758236584 Disease Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
rn00930 Caprolactam degradation
dbSNP Type Disease name
rs137853096 Disease D-bifunctional protein deficiency (DBPD) [MIM:261515]
rs137853101 Disease 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
rs137853102 Disease 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
rn00950 Isoquinoline alkaloid biosynthesis
dbSNP Type Disease name
rs28934277 Disease Tyrosinemia 2 (TYRSN2) [MIM:276600]
rn00960 Tropane, piperidine and pyridine alkaloid biosynthesis
dbSNP Type Disease name
rs35097308 Polymorphism -
rs71647871 Polymorphism -
rn00965 Betalain biosynthesis
dbSNP Type Disease name
rs4986871 Polymorphism -
rn00966 Glucosinolate biosynthesis
dbSNP Type Disease name
rs1057204 Polymorphism -
hsa00970 Aminoacyl-tRNA biosynthesis
dbSNP Type Disease name
- Disease Charcot-Marie-Tooth disease 2D (CMT2D) [MIM:601472]
rs12144752 Polymorphism -
rs121908833 Disease Charcot-Marie-Tooth disease, dominant, intermediate type, C (CMTDIC) [MIM:608323]
rs137852648 Disease Charcot-Marie-Tooth disease 2D (CMT2D) [MIM:601472]
rs143473232 Disease Charcot-Marie-Tooth disease 2W (CMT2W) [MIM:616625]
rs2128600 Polymorphism -
rs28937323 Disease Neuronopathy, distal hereditary motor, 5A (HMN5A) [MIM:600794]
rs5030752 Polymorphism -
rs536175170 Unclassified -
rs770525873 Disease Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
rs772489337 Disease Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
rs863225123 Disease Charcot-Marie-Tooth disease 2W (CMT2W) [MIM:616625]
hsa00980 Metabolism of xenobiotics by cytochrome P450
dbSNP Type Disease name
- Disease Glaucoma, primary open angle (POAG) [MIM:137760]
- Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
- Disease 46,XY sex reversal 8 (SRXY8) [MIM:614279]
- Disease Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
rs1041969 Polymorphism -
rs104893628 Disease Glaucoma, primary open angle (POAG) [MIM:137760]
rs104893628 Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs1052661 Polymorphism -
rs1056892 Polymorphism -
rs11509436 Polymorphism -
rs1229984 Polymorphism -
rs12721627 Polymorphism -
rs12721629 Polymorphism -
rs148044792 Polymorphism -
rs1695 Polymorphism -
rs17878459 Polymorphism -
rs17884712 Polymorphism -
rs17885179 Polymorphism -
rs192154563 Polymorphism -
rs2066702 Polymorphism -
rs2835285 Polymorphism -
rs28371759 Polymorphism -
rs28730628 Polymorphism -
rs3208363 Polymorphism -
rs35385902 Polymorphism -
rs3758581 Polymorphism -
rs41291556 Polymorphism -
rs449856 Polymorphism -
rs45529437 Polymorphism -
rs4986887 Polymorphism -
rs4986908 Polymorphism -
rs4986910 Polymorphism -
rs4987161 Polymorphism -
rs55785340 Polymorphism -
rs55901263 Polymorphism -
rs55951658 Polymorphism -
rs56324128 Polymorphism -
rs56337013 Polymorphism -
rs57865060 Disease Glaucoma, primary open angle (POAG) [MIM:137760]
rs57865060 Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs67784355 Polymorphism -
rs72549376 Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs72549378 Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs72552799 Polymorphism -
rs9282671 Disease Glaucoma, primary open angle (POAG) [MIM:137760]
rs9341250 Polymorphism -
hsa00982 Drug metabolism - cytochrome P450
dbSNP Type Disease name
- Disease Glaucoma, primary open angle (POAG) [MIM:137760]
- Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
- Disease Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
rs1041969 Polymorphism -
rs104893628 Disease Glaucoma, primary open angle (POAG) [MIM:137760]
rs104893628 Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs104893629 Disease Glaucoma, primary open angle (POAG) [MIM:137760]
rs104893629 Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs1052661 Polymorphism -
rs1056837 Polymorphism -
rs11509436 Polymorphism -
rs1229984 Polymorphism -
rs12721627 Polymorphism -
rs12721629 Polymorphism -
rs148542782 Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs1695 Polymorphism -
rs17878459 Polymorphism -
rs17884712 Polymorphism -
rs17885179 Polymorphism -
rs192154563 Polymorphism -
rs2066702 Polymorphism -
rs28371759 Polymorphism -
rs28730628 Polymorphism -
rs28936701 Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs3208363 Polymorphism -
rs35385902 Polymorphism -
rs3758581 Polymorphism -
rs41291556 Polymorphism -
rs449856 Polymorphism -
rs45529437 Polymorphism -
rs4986908 Polymorphism -
rs4986910 Polymorphism -
rs4987161 Polymorphism -
rs55785340 Polymorphism -
rs55901263 Polymorphism -
rs55951658 Polymorphism -
rs55989760 Disease Glaucoma, primary open angle (POAG) [MIM:137760]
rs55989760 Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs56324128 Polymorphism -
rs56337013 Polymorphism -
rs57865060 Disease Glaucoma, primary open angle (POAG) [MIM:137760]
rs57865060 Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs59472972 Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs66583685 Disease Glaucoma, primary open angle (POAG) [MIM:137760]
rs67784355 Polymorphism -
rs72549378 Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs72549382 Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs72552799 Polymorphism -
rs753847648 Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs9282670 Polymorphism -
rs9341250 Polymorphism -
hsa00983 Drug metabolism - other enzymes
dbSNP Type Disease name
- Disease Lesch-Nyhan syndrome (LNS) [MIM:300322]
- Disease Gout HPRT-related (GOUT-HPRT) [MIM:300323]
rs1041988 Polymorphism -
rs121913037 Disease Mitochondrial DNA depletion syndrome 1, MNGIE type (MTDPS1) [MIM:603041]
rs12721627 Polymorphism -
rs12721629 Polymorphism -
rs137852485 Disease Gout HPRT-related (GOUT-HPRT) [MIM:300323]
rs137852487 Disease Lesch-Nyhan syndrome (LNS) [MIM:300322]
rs137852488 Disease Lesch-Nyhan syndrome (LNS) [MIM:300322]
rs137852496 Disease Lesch-Nyhan syndrome (LNS) [MIM:300322]
rs137852498 Disease Gout HPRT-related (GOUT-HPRT) [MIM:300323]
rs149977726 Disease Mitochondrial DNA depletion syndrome 1, MNGIE type (MTDPS1) [MIM:603041]
rs17843776 Polymorphism -
rs1799931 Polymorphism -
rs1800460 Polymorphism -
rs267606863 Disease Lesch-Nyhan syndrome (LNS) [MIM:300322]
rs4986782 Polymorphism -
rs4986783 Polymorphism -
rs4986910 Polymorphism -
rs4986996 Polymorphism -
rs4987161 Polymorphism -
rs55785340 Polymorphism -
rs55951658 Polymorphism -
rs56387565 Polymorphism -
rs67784355 Polymorphism -
rs71647871 Polymorphism -
rs72552799 Polymorphism -
rs72554609 Polymorphism -
rn00984 Steroid degradation
dbSNP Type Disease name
- Disease 46,XY sex reversal 8 (SRXY8) [MIM:614279]
hsa01100 Metabolic pathways
dbSNP Type Disease name
- Disease Hereditary coproporphyria (HCP) [MIM:121300]
- Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
- Disease Glaucoma, primary open angle (POAG) [MIM:137760]
- Disease Porokeratosis 3, multiple types (POROK3) [MIM:175900]
- Disease Hepatoerythropoietic porphyria (HEP) [MIM:176100]
- Disease Adrenal hyperplasia 5 (AH5) [MIM:202110]
- Disease 3-ketothiolase deficiency (3KTD) [MIM:203750]
- Disease Argininemia (ARGIN) [MIM:207800]
- Disease Citrullinemia 1 (CTLN1) [MIM:215700]
- Disease Galactosemia II (GALCT2) [MIM:230200]
- Disease GM1-gangliosidosis 1 (GM1G1) [MIM:230500]
- Disease GM1-gangliosidosis 2 (GM1G2) [MIM:230600]
- Disease GM1-gangliosidosis 3 (GM1G3) [MIM:230650]
- Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
- Disease Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
- Disease Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
- Disease 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
- Disease Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
- Disease Mucopolysaccharidosis 4B (MPS4B) [MIM:253010]
- Disease Phenylketonuria (PKU) [MIM:261600]
- Disease Hyperphenylalaninemia, BH4-deficient, A (HPABH4A) [MIM:261640]
- Disease Congenital erythropoietic porphyria (CEP) [MIM:263700]
- Disease Postaxial acrofacial dysostosis (POADS) [MIM:263750]
- Disease Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
- Disease Canavan disease (CAND) [MIM:271900]
- Disease Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
- Disease GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
- Disease Tyrosinemia 3 (TYRSN3) [MIM:276710]
- Disease Lesch-Nyhan syndrome (LNS) [MIM:300322]
- Disease Gout HPRT-related (GOUT-HPRT) [MIM:300323]
- Disease Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]
- Disease Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
- Disease Spastic paraplegia 9A, autosomal dominant (SPG9A) [MIM:601162]
- Disease Nonaka myopathy (NM) [MIM:605820]
- Disease Mucopolysaccharidosis 1H (MPS1H) [MIM:607014]
- Disease Mucopolysaccharidosis 1S (MPS1S) [MIM:607016]
- Disease Leber congenital amaurosis 9 (LCA9) [MIM:608553]
- Disease Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
- Disease Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
- Disease 46,XY sex reversal 8 (SRXY8) [MIM:614279]
- Disease Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723]
- Disease Interstitial nephritis, karyomegalic (KMIN) [MIM:614817]
- Disease Microphthalmia, isolated, 8 (MCOP8) [MIM:615113]
- Disease Spastic paraplegia 9B, autosomal recessive (SPG9B) [MIM:616586]
- Disease Portal hypertension, non-cirrhotic (NCPH) [MIM:617068]
- Disease Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4 (PEOB4) [MIM:617070]
rs1041969 Polymorphism -
rs1041988 Polymorphism -
rs104893628 Disease Glaucoma, primary open angle (POAG) [MIM:137760]
rs104893628 Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs104893629 Disease Glaucoma, primary open angle (POAG) [MIM:137760]
rs104893629 Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs104893631 Disease Mitochondrial DNA depletion syndrome 3 (MTDPS3) [MIM:251880]
rs104893643 Disease Fructosuria (FRUCT) [MIM:229800]
rs104893644 Disease Fructosuria (FRUCT) [MIM:229800]
rs104893943 Disease Argininemia (ARGIN) [MIM:207800]
rs104894009 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs104894036 Disease Phosphoserine phosphatase deficiency (PSPHD) [MIM:614023]
rs104894135 Disease Adrenal hyperplasia 5 (AH5) [MIM:202110]
rs104894142 Disease Adrenal hyperplasia 5 (AH5) [MIM:202110]
rs104894146 Disease Adrenal hyperplasia 5 (AH5) [MIM:202110]
rs104894147 Disease Adrenal hyperplasia 5 (AH5) [MIM:202110]
rs104894149 Disease Adrenal hyperplasia 5 (AH5) [MIM:202110]
rs104894153 Disease Adrenal hyperplasia 5 (AH5) [MIM:202110]
rs104894452 Disease Purine nucleoside phosphorylase deficiency (PNPD) [MIM:613179]
rs104894506 Disease Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723]
rs104894550 Disease Canavan disease (CAND) [MIM:271900]
rs104894551 Disease Canavan disease (CAND) [MIM:271900]
rs104894694 Disease Cerebral creatine deficiency syndrome 2 (CCDS2) [MIM:612736]
rs104895297 Disease Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
rs104895298 Disease Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
rs104895301 Disease Porokeratosis 3, multiple types (POROK3) [MIM:175900]
rs104895301 Disease Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
rs104895314 Disease Mevalonic aciduria (MEVA) [MIM:610377]
rs104895317 Disease Mevalonic aciduria (MEVA) [MIM:610377]
rs104895336 Disease Hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) [MIM:260920]
rs1048994 Polymorphism -
rs1051931 Polymorphism -
rs1054374 Polymorphism -
rs1056892 Polymorphism -
rs1057204 Polymorphism -
rs111033648 Disease Galactosemia (GALCT) [MIM:230400]
rs111033669 Disease Galactosemia (GALCT) [MIM:230400]
rs111033715 Disease Galactosemia (GALCT) [MIM:230400]
rs111033720 Disease Galactosemia (GALCT) [MIM:230400]
rs111033802 Disease Galactosemia (GALCT) [MIM:230400]
rs111033808 Disease Galactosemia (GALCT) [MIM:230400]
rs111033809 Disease Galactosemia (GALCT) [MIM:230400]
rs111033810 Disease Galactosemia (GALCT) [MIM:230400]
rs111033832 Disease Galactosemia (GALCT) [MIM:230400]
rs113993976 Disease Glycogen storage disease 6 (GSD6) [MIM:232700]
rs113993977 Disease Glycogen storage disease 6 (GSD6) [MIM:232700]
rs115014558 Polymorphism -
rs11509436 Polymorphism -
rs11509438 Polymorphism -
rs11509439 Polymorphism -
rs11541962 Polymorphism -
rs11541963 Polymorphism -
rs11544658 Polymorphism -
rs11549147 Polymorphism -
rs11549976 Polymorphism -
rs11614976 Polymorphism -
rs118203925 Disease Non-phenylketonuria hyperphenylalaninemia (Non-PKU HPA) [MIM:261600]
rs120074140 Disease 3-ketothiolase deficiency (3KTD) [MIM:203750]
rs120074141 Disease 3-ketothiolase deficiency (3KTD) [MIM:203750]
rs120074145 Disease 3-ketothiolase deficiency (3KTD) [MIM:203750]
rs120074146 Disease 3-ketothiolase deficiency (3KTD) [MIM:203750]
rs120074147 Disease 3-ketothiolase deficiency (3KTD) [MIM:203750]
rs121434275 Disease Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
rs121434278 Disease Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
rs121434279 Disease Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
rs121434281 Disease Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
rs121434283 Disease Acyl-CoA dehydrogenase medium-chain deficiency (ACADMD) [MIM:201450]
rs121434534 Disease Aromatase deficiency (AROD) [MIM:613546]
rs121434583 Disease Cutis laxa, autosomal recessive, 3A (ARCL3A) [MIM:219150]
rs12144752 Polymorphism -
rs121908014 Disease Congenital erythropoietic porphyria (CEP) [MIM:263700]
rs121908020 Disease Congenital erythropoietic porphyria (CEP) [MIM:263700]
rs121908021 Disease Congenital erythropoietic porphyria (CEP) [MIM:263700]
rs121908047 Disease Epimerase-deficiency galactosemia (EDG) [MIM:230350]
rs121908520 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs121908524 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs121908527 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs121908530 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs121908605 Disease Molybdenum cofactor deficiency, complementation group B (MOCODB) [MIM:252160]
rs121908633 Disease Nonaka myopathy (NM) [MIM:605820]
rs121908638 Disease Citrullinemia 1 (CTLN1) [MIM:215700]
rs121908724 Disease Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
rs121908725 Disease Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID) [MIM:102700]
rs121908951 Disease Brachyolmia type 4 with mild epiphyseal and metaphyseal changes (BCYM4) [MIM:612847]
rs121909308 Disease Glutathione synthetase deficiency (GSS deficiency) [MIM:266130]
rs121912592 Disease Carbamoyl phosphate synthetase 1 deficiency (CPS1D) [MIM:237300]
rs121912707 Disease Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
rs121912711 Disease Pyridoxine-dependent epilepsy (PDE) [MIM:266100]
rs121913037 Disease Mitochondrial DNA depletion syndrome 1, MNGIE type (MTDPS1) [MIM:603041]
rs121913499 Unclassified A glioma sample
rs121917868 Disease Hereditary coproporphyria (HCP) [MIM:121300]
rs121917874 Disease Hereditary coproporphyria (HCP) [MIM:121300]
rs121917887 Polymorphism -
rs121918058 Disease Familial porphyria cutanea tarda (FPCT) [MIM:176100]
rs121918063 Disease Familial porphyria cutanea tarda (FPCT) [MIM:176100]
rs121918329 Disease 3-hydroxyisobutryl-CoA hydrolase deficiency (HIBCHD) [MIM:250620]
rs121918822 Polymorphism -
rs121918824 Polymorphism -
rs121964925 Disease Bisphosphoglycerate mutase deficiency (BPGMD) [MIM:222800]
rs121964963 Disease Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
rs121964966 Disease Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
rs121964968 Disease Cystathionine beta-synthase deficiency (CBSD) [MIM:236200]
rs121964988 Disease Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
rs121964993 Disease Dihydrolipoamide dehydrogenase deficiency (DLDD) [MIM:246900]
rs1229984 Polymorphism -
rs12721627 Polymorphism -
rs12721629 Polymorphism -
rs13408961 Polymorphism -
rs137852316 Disease Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
rs137852325 Disease Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
rs137852329 Disease Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
rs137852349 Disease Anemia, non-spherocytic hemolytic, due to G6PD deficiency (NSHA) [MIM:300908]
rs137852485 Disease Gout HPRT-related (GOUT-HPRT) [MIM:300323]
rs137852487 Disease Lesch-Nyhan syndrome (LNS) [MIM:300322]
rs137852488 Disease Lesch-Nyhan syndrome (LNS) [MIM:300322]
rs137852496 Disease Lesch-Nyhan syndrome (LNS) [MIM:300322]
rs137852498 Disease Gout HPRT-related (GOUT-HPRT) [MIM:300323]
rs137852530 Polymorphism -
rs137852533 Disease Phosphoglycerate kinase 1 deficiency (PGK1D) [MIM:300653]
rs137852543 Disease Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]
rs137852545 Disease Phosphoribosylpyrophosphate synthetase superactivity (PRPS1 superactivity) [MIM:300661]
rs137852640 Disease 3-hydroxy-3-methylglutaryl-CoA synthase-2 deficiency (HMGCS2D) [MIM:605911]
rs137852937 Disease Hyperprolinemia 2 (HYRPRO2) [MIM:239510]
rs137853096 Disease D-bifunctional protein deficiency (DBPD) [MIM:261515]
rs137853101 Disease 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
rs137853102 Disease 3-alpha-hydroxyacyl-CoA dehydrogenase deficiency (HADH deficiency) [MIM:231530]
rs137853582 Disease Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
rs137853842 Disease Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
rs137853846 Disease Dent disease 2 (DD2) [MIM:300555]
rs137853848 Disease Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
rs137853852 Disease Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
rs137853853 Disease Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
rs137853856 Disease Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
rs137853857 Disease Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]
rs137853860 Disease Epimerase-deficiency galactosemia (EDG) [MIM:230350]
rs137853861 Disease Epimerase-deficiency galactosemia (EDG) [MIM:230350]
rs138207257 Disease Hyperoxaluria primary 3 (HP3) [MIM:613616]
rs138613460 Disease Leber congenital amaurosis 9 (LCA9) [MIM:608553]
rs13894 Polymorphism -
rs139382538 Disease Hemolytic anemia, non-spherocytic, due to glucose phosphate isomerase deficiency (HA-GPID) [MIM:613470]
rs139388833 Disease Congenital erythropoietic porphyria (CEP) [MIM:263700]
rs139751598 Disease Cutis laxa, autosomal recessive, 2B (ARCL2B) [MIM:612940]
rs140778208 Polymorphism -
rs140992177 Polymorphism -
rs142814307 Disease Cerebral creatine deficiency syndrome 3 (CCDS3) [MIM:612718]
rs145087265 Disease Succinic semialdehyde dehydrogenase deficiency (SSADHD) [MIM:271980]
rs148311934 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs148542782 Disease Glaucoma 3, primary congenital, A (GLC3A) [MIM:231300]
rs148639841 Disease 3-ketothiolase deficiency (3KTD) [MIM:203750]
rs149977726 Disease Mitochondrial DNA depletion syndrome 1, MNGIE type (MTDPS1) [MIM:603041]
rs150338273 Polymorphism -
rs16952692 Polymorphism -
rs17004876 Polymorphism -
rs17153561 Polymorphism -
rs17173752 Polymorphism -
rs17843776 Polymorphism -
rs17853396 Polymorphism -
rs17878459 Polymorphism -
rs17884712 Polymorphism -
rs17885179 Polymorphism -
rs180177155 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177156 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177157 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177173 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177185 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177197 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177225 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177236 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177244 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177253 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177264 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177289 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs180177290 Disease Hyperoxaluria primary 1 (HP1) [MIM:259900]
rs182923857 Disease Maple syrup urine disease 1A (MSUD1A) [MIM:248600]
rs188934928 Polymorphism -
rs192154563 Polymorphism -
rs193922272 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs193922297 Disease Maturity-onset diabetes of the young 2 (MODY2) [MIM:125851]
rs1950902 Polymorphism -
rs199475567 Disease Phenylketonuria (PKU) [MIM:261600]
rs199475579 Disease Phenylketonuria (PKU) [MIM:261600]
rs199475580 Disease Phenylketonuria (PKU) [MIM:261600]
rs199475582 Disease Phenylketonuria (PKU) [MIM:261600]
rs199475598 Disease Hyperphenylalaninemia (HPA) [MIM:261600]
rs199475610 Disease Phenylketonuria (PKU) [MIM:261600]
rs199475643 Disease Hyperphenylalaninemia (HPA) [MIM:261600]
rs199475651 Disease Phenylketonuria (PKU) [MIM:261600]
rs199578185 Disease GM2-gangliosidosis 1 (GM2G1) [MIM:272800]
rs199587895 Disease 3-hydroxy-3-methylglutaryl-CoA lyase deficiency (HMGCLD) [MIM:246450]
rs200833152 Polymorphism -
rs201316181 Polymorphism -
rs202225656 Polymorphism -
rs2066702 Polymorphism -
rs2228307 Polymorphism -
rs2233213 Polymorphism -
rs2233215 Polymorphism -
rs2233218 Polymorphism -
rs2234622 Polymorphism -
rs2330837 Polymorphism -
rs2330838 Polymorphism -
rs267606635 Unclassified -
rs267606760 Disease Dopamine beta-hydroxylase deficiency (DBH deficiency) [MIM:223360]
rs267606863 Disease Lesch-Nyhan syndrome (LNS) [MIM:300322]
rs267606947 Disease Phosphoglycerate dehydrogenase deficiency (PHGDHD) [MIM:601815]
rs267606949 Disease Phosphoglycerate dehydrogenase deficiency (PHGDHD) [MIM:601815]
rs267607076 Disease X-linked syndromic mental retardation Snyder-Robinson type (MRXSSR) [MIM:309583]
rs2835285 Polymorphism -