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
RS200679450 FYCO1 Health Risk Pathogenic Cataract 18, Cataract 18
RS200679577 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS200679671 ZAP70 Health Risk Pathogenic Combined immunodeficiency due to ZAP70 deficiency, Combined immunodeficiency due to ZAP70 deficiency
RS200679996 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1
RS200680023 GEMIN5 Health Risk Likely pathogenic GEMIN5-related disorder, Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction
RS200680102 PLEC Health Risk Conflicting classifications of pathogenicity 6 conditions, Epidermolysis bullosa simplex 5C
RS200680654 OTX2 Health Risk Conflicting classifications of pathogenicity Anophthalmia-microphthalmia syndrome, Inborn genetic diseases
RS200681093 HPS6 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 6, HPS6-related disorder
RS200681169 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Isolated focal cortical dysplasia type II
RS200681631 DNAH9 Health Risk Pathogenic Congenital heart disease, Congenital heart disease
RS200682458 SCN9A Health Risk Conflicting classifications of pathogenicity Primary erythromelalgia, Paroxysmal extreme pain disorder
RS200682819 SLC10A2 Health Risk Conflicting classifications of pathogenicity SLC10A2-related disorder, SLC10A2-related disorder
RS200682836 RIN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200683131 PNPLA8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Mitochondrial myopathy-lactic acidosis-deafness syndrome
RS200683247 PNPLA2 Health Risk Conflicting classifications of pathogenicity Neutral lipid storage myopathy, Neutral lipid storage myopathy
RS200683292 RTEL1 Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS200683433 CP Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Deficiency of ferroxidase
RS200683472 NDUFB9 Health Risk Conflicting classifications of pathogenicity —
RS200683924 ST3GAL5 Health Risk Conflicting classifications of pathogenicity GM3 synthase deficiency, Inborn genetic diseases
RS200684000 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS200684031 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Inborn genetic diseases
RS200684032 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2A1
RS200684088 PEX14 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 13A (Zellweger), Peroxisome biogenesis disorder
RS200684767 CHRNB1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 2A, Inborn genetic diseases
RS200684841 TRPM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Optic atrophy
RS200685237 EMP2 Health Risk Conflicting classifications of pathogenicity —
RS200685807 VCAN Health Risk Conflicting classifications of pathogenicity Vitreoretinopathy, Vitreoretinopathy
RS200685818 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Febrile seizures
RS200685916 ARSG Health Risk Pathogenic Usher syndrome, type 4
RS200686247 PJVK Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 59, PJVK-related disorder
RS200686732 LRPPRC Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Congenital lactic acidosis
RS200687571 ABCC8 Health Risk Pathogenic Leucine-induced hypoglycemia, Hyperinsulinemic hypoglycemia
RS200687647 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS200688214 MTHFR Health Risk Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS200688546 UPB1 Health Risk Conflicting classifications of pathogenicity Deficiency of beta-ureidopropionase, Inborn genetic diseases
RS200688598 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS200688741 PAX9 Health Risk Conflicting classifications of pathogenicity Tooth agenesis, selective
RS200688985 BBS1 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
RS200689030 PUS3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200689054 DOCK8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Combined immunodeficiency due to DOCK8 deficiency
RS200689194 COL1A1 Health Risk Conflicting classifications of pathogenicity Infantile cortical hyperostosis, Osteogenesis imperfecta
RS200689195 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS200689333 OTOA Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 22, OTOA-related disorder
RS200689750 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Tibial muscular dystrophy
RS200689785 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, FRAS1-related disorder
RS200690226 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS200690479 JUP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS200690492 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS200690984 DSPP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200691042 FAM161A Health Risk Pathogenic Retinitis pigmentosa 28, Cone-rod dystrophy
RS200691730 USH2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200692223 PSEN1 Health Risk Conflicting classifications of pathogenicity Alzheimer disease 3, Dilated cardiomyopathy 1U
RS200692258 OCA2 Health Risk Conflicting classifications of pathogenicity SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
RS200692352 COL10A1 Health Risk Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, Schmid type
RS200692436 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 2
RS200692438 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Cone-rod dystrophy 3
RS200692465 POMT1 Health Risk Conflicting classifications of pathogenicity POMT1-related disorder, Walker-Warburg congenital muscular dystrophy
RS200692490 WDR19 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS200693022 FRAS1 Health Risk Conflicting classifications of pathogenicity FRAS1-related disorder, Fraser syndrome 1
RS200693100 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Maturity-onset diabetes of the young
RS200693106 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS200693133 DCLRE1C Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DCLRE1C deficiency, Athabaskan severe combined immunodeficiency
RS200693339 SLC39A4 Health Risk Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS200693409 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS200693552 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS200693646 LTBP3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LTBP3-related disorder
RS200694443 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa
RS200694593 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS200694691 KCNT1 Health Risk Conflicting classifications of pathogenicity Focal epilepsy, Developmental and epileptic encephalopathy
RS200694727 TYROBP Health Risk Conflicting classifications of pathogenicity Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
RS200694933 CNGB1 Health Risk Conflicting classifications of pathogenicity —
RS200695002 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS200695047 PKLR Health Risk Conflicting classifications of pathogenicity Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
RS200695102 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS200695849 MAG Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 75, Hereditary spastic paraplegia 75
RS200695994 NBEA Health Risk Conflicting classifications of pathogenicity —
RS200696413 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS200696675 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS200696740 POU3F4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200696965 PCARE Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 54
RS200697030 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder
RS200697103 CIB2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 48, Usher syndrome type 1J
RS200697129 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS200697179 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS200697649 BPTF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200697681 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1G
RS200698497 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases
RS200698641 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS200698755 GCK Health Risk Conflicting classifications of pathogenicity Transient Neonatal Diabetes, Recessive
RS200698933 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS200698961 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS200698972 MME Health Risk Pathogenic —
RS200699050 NBEA Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without early-onset generalized epilepsy, Inborn genetic diseases
RS200699092 OTOF Health Risk Conflicting classifications of pathogenicity —
RS200699349 ZNF142 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with impaired speech and hyperkinetic movements, Inborn genetic diseases
RS200699377 IFT74 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 22, IFT74-related disorder
RS200699541 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS200699819 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS200699984 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS200700087 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
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