SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS2285981 NOTCH3 Health Risk Likely pathogenic Auditory neuropathy, Auditory neuropathy
RS2287616 ABCB11 Health Risk Likely pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS2287617 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder
RS2287626 ABCC9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1O
RS2288057 BBS2 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Retinal dystrophy
RS2288326 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy
RS2288530 TNNI3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, familial restrictive
RS2289181 CEP152 Health Risk Pathogenic —
RS2289292 TBX6 Health Risk Conflicting classifications of pathogenicity —
RS2289537 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS2290169 COPB1 Health Risk Conflicting classifications of pathogenicity Baralle-Macken syndrome, Hepatocellular carcinoma
RS2291307 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy
RS2291550 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Hypertrichotic osteochondrodysplasia Cantu type
RS2293340 GUSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, Hepatocellular carcinoma
RS2293417 SMARCE1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial meningioma
RS2293564 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS2293734 HGD Health Risk Conflicting classifications of pathogenicity Alkaptonuria, Alkaptonuria
RS2294024 TG Health Risk Pathogenic —
RS2294301 HAO1 Health Risk association Nephrolithiasis, calcium oxalate
RS2294305 HAO1 Health Risk association Nephrolithiasis, calcium oxalate
RS2294918 PNPLA3 Health Risk Conflicting classifications of pathogenicity NAFLD1, NAFLD1
RS2295056 SDHB Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS2295919 COL4A6 Health Risk Conflicting classifications of pathogenicity —
RS229593 SPTB Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Uterine corpus endometrial carcinoma
RS2295947 RSPH9 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 12
RS2296166 GNPAT Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 2, Rhizomelic chondrodysplasia punctata type 2
RS2296253 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS2296651 SLC10A1 Health Risk Conflicting classifications of pathogenicity Hypercholanemia, familial
RS2296928 TRMT5 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 26, Combined oxidative phosphorylation defect type 26
RS2297472 LIPA Health Risk Conflicting classifications of pathogenicity Lysosomal acid lipase deficiency, Wolman disease
RS2297599 ASS1 Health Risk Conflicting classifications of pathogenicity Citrullinemia type I, Citrullinemia
RS2297669 ABCA4 Health Risk Pathogenic Stargardt disease, Retinal dystrophy
RS2297947 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Malignant tumor of esophagus
RS2301368 NOS2 Health Risk association repeat number of microsatellite, repeat number of microsatellite
RS2301560 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS2301600 MAG Health Risk Pathogenic Hereditary spastic paraplegia 75, Hereditary spastic paraplegia 75
RS2301606 ADAMTSL2 Health Risk Conflicting classifications of pathogenicity Geleophysic dysplasia 1, Geleophysic dysplasia 1
RS2301703 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS2301734 WDR62 Health Risk Conflicting classifications of pathogenicity —
RS2301833 CACNA1G Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 42, Inborn genetic diseases
RS2302022 GHRHR Health Risk Pathogenic Isolated growth hormone deficiency, type 4
RS2302172 NTHL1;TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, NTHL1-related disorder
RS2302296 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, RYR1-related disorder
RS2302297 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS2302414 TTC19 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex III deficiency nuclear type 2, Lung cancer
RS2302691 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Inborn genetic diseases
RS2303156 SCNN1B Health Risk Conflicting classifications of pathogenicity Bronchiectasis with or without elevated sweat chloride 1, Liddle syndrome 1
RS2303426 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2303603 DYSF Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2303726 LTBP4 Health Risk Conflicting classifications of pathogenicity Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
RS2303783 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS2303790 CETP Health Risk Conflicting classifications of pathogenicity Hyperalphalipoproteinemia 1, Hyperalphalipoproteinemia 1
RS2303830 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2303834 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2304094 CACNA1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS2304846 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS2305207 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1D
RS2305795 P2RY11 Health Risk association Cataplexy and narcolepsy, Cataplexy and narcolepsy
RS2306058 ANKRD17 Health Risk association Lip and oral cavity carcinoma, Malignant lymphoma
RS2306234 BLK Health Risk association Systemic lupus erythematosus, Systemic lupus erythematosus
RS2307109 FBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Congenital contractural arachnodactyly
RS2307293 MBD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2307347 MCM7 Health Risk Conflicting classifications of pathogenicity —
RS2307429 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder
RS2307437 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder
RS2307440 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2307448 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Tip-toe gait
RS2307890 SYT14 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 11, Autosomal recessive spinocerebellar ataxia 11
RS2309689 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS231399 SH3BP2 Health Risk Conflicting classifications of pathogenicity Fibrous dysplasia of jaw, Fibrous dysplasia of jaw
RS2345056 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2363337 VWF Health Risk Pathogenic Hereditary von Willebrand disease, von Willebrand disease type 3
RS237025 SUMO4;TAB2 Health Risk Conflicting classifications of pathogenicity Type 1 diabetes mellitus 5, Diabetes mellitus type 1
RS2395029 HCP5;HLA-B Health Risk Conflicting classifications of pathogenicity Abacavir hypersensitivity, Autism spectrum disorder
RS2403254 LDHA Health Risk association decreased blood alpha-hydroxyisovalerate levels, decreased blood alpha-hydroxyisovalerate levels
RS2405876 DHFR;MSH3 Health Risk Conflicting classifications of pathogenicity —
RS2423326 HAO1 Health Risk association Nephrolithiasis, calcium oxalate
RS2432403 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2435357 RET Health Risk Benign; risk factor Hirschsprung disease, susceptibility to
RS243865 MMP2 Health Risk association Lip and oral cavity carcinoma, Lip and oral cavity carcinoma
RS2443637 SMPD4 Health Risk Conflicting classifications of pathogenicity Malignant lymphoma, large B-cell
RS2464034378 PHGDH Health Risk Likely pathogenic PHGDH deficiency, PHGDH deficiency
RS2464079458 PHGDH Health Risk Likely pathogenic PHGDH deficiency, PHGDH deficiency
RS2464080054 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
RS2464092239 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
RS2464111708 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
RS2464112014 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
RS2464112148 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
RS2464114425 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
RS2464114660 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
RS2464115103 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
RS2464155152 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
RS2464159619 PHGDH Health Risk Pathogenic/Likely pathogenic PHGDH deficiency, Neu-Laxova syndrome 1
RS2464160831 PHGDH Health Risk Pathogenic Neu-Laxova syndrome 1, Neu-Laxova syndrome 1
RS2464161009 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
RS2464170715 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
RS2464187735 PHGDH Health Risk Pathogenic/Likely pathogenic PHGDH deficiency, Neu-Laxova syndrome 1
RS2464195 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 3, Type 2 diabetes mellitus
RS2464195486 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
RS2464203249 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
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