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
RS201344770 ESRRB Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 35, Autosomal recessive nonsyndromic hearing loss 35
RS201345248 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS201345708 PTCH2 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS201345841 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS201345843 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS201345883 B3GALNT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS201346012 DST Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS201346142 F12 Health Risk Conflicting classifications of pathogenicity Factor XII deficiency disease, Hereditary angioedema type 3
RS201346206 HGSNAT Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-C
RS201346228 DCAF17 Health Risk Conflicting classifications of pathogenicity Woodhouse-Sakati syndrome, Inborn genetic diseases
RS201346271 CYP27A1 Health Risk Pathogenic/Likely pathogenic Cholestanol storage disease, CYP27A1-related disorder
RS201346406 CKAP2L Health Risk Conflicting classifications of pathogenicity Filippi syndrome, Filippi syndrome
RS201347067 PIEZO1 Health Risk Conflicting classifications of pathogenicity Hydrops fetalis, Hydrops fetalis
RS201347156 SARS2 Health Risk Conflicting classifications of pathogenicity Hyperuricemia, pulmonary hypertension
RS201347461 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Inborn genetic diseases
RS201347931 HOGA1 Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS201347953 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS201348482 BLOC1S6 Health Risk Pathogenic Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome
RS201348580 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS201348649 MTRR Health Risk Pathogenic Methylcobalamin deficiency type cblE, Disorders of Intracellular Cobalamin Metabolism
RS201349099 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5C
RS201349527 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS201349602 HMBS Health Risk Conflicting classifications of pathogenicity Acute intermittent porphyria, Acute intermittent porphyria
RS201349663 TXNRD2 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Glucocorticoid deficiency 5
RS201349683 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta with normal sclerae, dominant form
RS201349921 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS201350484 SDHD Health Risk Conflicting classifications of pathogenicity Carney-Stratakis syndrome, Cowden syndrome 3
RS201350526 NEK1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS201350598 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Inborn genetic diseases
RS201350764 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS201350869 CLPB Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria, type VIIB
RS201351157 NEXMIF Health Risk Conflicting classifications of pathogenicity —
RS201351339 MSR1 Health Risk Conflicting classifications of pathogenicity Ovarian cancer, Ovarian cancer
RS201351924 ABCB11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201351992 IGF1R Health Risk Conflicting classifications of pathogenicity Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
RS201352165 ZFHX4 Health Risk Conflicting classifications of pathogenicity ZFHX4-related disorder, ZFHX4-related disorder
RS201352230 RASA2 Health Risk Conflicting classifications of pathogenicity RASA2-related disorder, RASA2-related disorder
RS201352240 CDH3 Health Risk Conflicting classifications of pathogenicity EEM syndrome, EEM syndrome
RS201352504 ASL Health Risk Conflicting classifications of pathogenicity Argininosuccinate lyase deficiency, Argininosuccinate lyase deficiency
RS201352584 SOS1 Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome 1
RS201352690 FDX2 Health Risk Conflicting classifications of pathogenicity —
RS201352939 SLC25A13 Health Risk Conflicting classifications of pathogenicity Citrullinemia type II, Citrin deficiency
RS201353723 MITF Health Risk Conflicting classifications of pathogenicity Tietz syndrome, Waardenburg syndrome type 2A
RS201354177 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS201354264 WDR19 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS201354429 AQP4 Health Risk Conflicting classifications of pathogenicity —
RS201354547 VSX2 Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 2, Microphthalmia
RS201354863 DLG5 Health Risk Conflicting classifications of pathogenicity —
RS201355021 COL4A6 Health Risk Conflicting classifications of pathogenicity COL4A6-related disorder, COL4A6-related disorder
RS201355053 RIMS1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 7, Cone-rod dystrophy 7
RS201355503 PCARE Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS201356083 ROBO2 Health Risk Conflicting classifications of pathogenicity Vesicoureteral reflux 2, ROBO2-related disorder
RS201356558 FLG Health Risk Pathogenic/Likely pathogenic Ichthyosis vulgaris, Dermatitis
RS201356785 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome due to CREBBP mutations
RS201356862 LHX3 Health Risk Conflicting classifications of pathogenicity Non-acquired combined pituitary hormone deficiency with spine abnormalities, Non-acquired combined pituitary hormone deficiency with spine abnormalities
RS201356906 IFT172 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS201356986 CYBB Health Risk Conflicting classifications of pathogenicity Granulomatous disease, chronic
RS201357130 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS201357509 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS201357602 DCLRE1B Health Risk Pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS201358102 ROBO3 Health Risk Conflicting classifications of pathogenicity Gaze palsy, familial horizontal
RS201358110 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS201358147 KDM4B Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS201358272 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2D, Charcot-Marie-Tooth disease type 2
RS201358363 TNFRSF1A Health Risk Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS), TNF receptor-associated periodic fever syndrome (TRAPS)
RS201358424 PIK3AP1 Health Risk Conflicting classifications of pathogenicity Infantile spasms, Infantile spasms
RS201358641 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS201359061 GSS Health Risk Conflicting classifications of pathogenicity Inherited glutathione synthetase deficiency, Inherited glutathione synthetase deficiency
RS201359237 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, CDH23-related disorder
RS201359669 USH1G Health Risk Conflicting classifications of pathogenicity USH1G-related disorder, USH1G-related disorder
RS201360247 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Vesicoureteral reflux 8
RS201360324 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS201361100 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS201361304 CASC21;CASC8 Health Risk association Familial prostate cancer, Familial prostate cancer
RS201361465 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS201361628 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS201361713 CARD8 Health Risk Conflicting classifications of pathogenicity —
RS201362403 FAM161A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 28
RS201362733 MKS1 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS201362977 ASPM Health Risk Likely pathogenic Microcephaly 5, primary
RS201363122 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS201363211 NIN Health Risk Conflicting classifications of pathogenicity —
RS201363586 PDE8B Health Risk Conflicting classifications of pathogenicity Autosomal dominant striatal neurodegeneration type 1, Inborn genetic diseases
RS201363767 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS201363860 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS201363937 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial isolated arrhythmogenic right ventricular dysplasia
RS201363981 KIDINS220 Health Risk Conflicting classifications of pathogenicity Ventriculomegaly and arthrogryposis, Ventriculomegaly and arthrogryposis
RS201364163 ABCA3 Health Risk Conflicting classifications of pathogenicity Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis
RS201364164 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS201364510 HCN2;POLRMT Health Risk Pathogenic Combined oxidative phosphorylation deficiency 55, Combined oxidative phosphorylation deficiency 55
RS201364571 RNF43 Health Risk Conflicting classifications of pathogenicity Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS201364588 SPP2 Health Risk Conflicting classifications of pathogenicity —
RS201364732 COG1 Health Risk Conflicting classifications of pathogenicity COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation
RS201364852 CDH23 Health Risk Conflicting classifications of pathogenicity —
RS201365474 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS201365992 EGLN1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS201366118 TJP2 Health Risk Conflicting classifications of pathogenicity Cholestasis, progressive familial intrahepatic
RS201366184 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease type 1A
RS201366240 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS201366506 OBSCN Health Risk Conflicting classifications of pathogenicity —
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