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
RS201896815 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS201897402 TIMM8A Health Risk Conflicting classifications of pathogenicity —
RS201897431 NDUFS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Mitochondrial complex I deficiency
RS201897506 POMT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2K, Walker-Warburg congenital muscular dystrophy
RS201898019 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS201898089 PROKR2 Health Risk Likely pathogenic Hypogonadotropic hypogonadism 3 with or without anosmia, Hypogonadotropic hypogonadism 3 with or without anosmia
RS201898226 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Colorectal cancer
RS201898612 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS201899093 HTR1A Health Risk Conflicting classifications of pathogenicity Menstrual cycle-dependent periodic fever, Menstrual cycle-dependent periodic fever
RS201899110 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS201899206 CFAP61 Health Risk Pathogenic Spermatogenic failure 84, Spermatogenic failure 84
RS201899316 TJP1 Health Risk Conflicting classifications of pathogenicity —
RS201899366 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS201899604 ARID1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201899630 TRDN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS201899988 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS201900032 ICOSLG Health Risk Conflicting classifications of pathogenicity —
RS201900480 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS201901144 CEP164 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 15, Inborn genetic diseases
RS201901213 ARMC9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201901241 COL4A4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201901274 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS201901663 MTR Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, See cases
RS201901718 SPEG Health Risk Conflicting classifications of pathogenicity SPEG-related disorder, SPEG-related disorder
RS201901739 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS2019017595 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS201901775 RIPOR2 Health Risk Conflicting classifications of pathogenicity —
RS2019019815 EDA Health Risk Pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS201902382 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Inborn genetic diseases
RS201902411 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Vesicoureteral reflux 8
RS201902695 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS201902809 DLL3 Health Risk Conflicting classifications of pathogenicity Spondylocostal dysostosis 1, autosomal recessive
RS201902834 NTRK2 Health Risk Conflicting classifications of pathogenicity Developmental disorder, Inborn genetic diseases
RS201902848 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS201903713 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Senior-Loken syndrome 4
RS201903758 GLB1 Health Risk Conflicting classifications of pathogenicity GM1 gangliosidosis, Mucopolysaccharidosis
RS201904230 ARID1A Health Risk Conflicting classifications of pathogenicity —
RS201904265 NGLY1 Health Risk Conflicting classifications of pathogenicity Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS201904393 IPO8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201904621 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS201904651 ATP8A2 Health Risk Conflicting classifications of pathogenicity ATP8A2-related disorder, ATP8A2-related disorder
RS201904720 TK2 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome, myopathic form
RS201904848 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS201904856 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS201904897 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS201905108 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS201905164 TIA1 Health Risk Conflicting classifications of pathogenicity Welander distal myopathy, Welander distal myopathy
RS201905166 IDS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-II
RS201905280 SLC26A4 Health Risk Conflicting classifications of pathogenicity Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS201905405 SCN1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS201905628 ASS1 Health Risk Conflicting classifications of pathogenicity Citrullinemia type I, Citrullinemia
RS201905772 IMPG2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS201905804 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS201905890 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS201906397 P4HB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201907325 HRC;TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Brugada syndrome
RS201907715 PROC Health Risk Pathogenic/Likely pathogenic Reduced protein C activity, Thrombophilia due to protein C deficiency
RS201907821 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, Inborn genetic diseases
RS201908045 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS201908137 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis
RS201908228 ISCA2 Health Risk Conflicting classifications of pathogenicity Multiple mitochondrial dysfunctions syndrome 4, Inborn genetic diseases
RS201908439 RAB11A Health Risk Conflicting classifications of pathogenicity —
RS201908493 MYO15A Health Risk Conflicting classifications of pathogenicity Childhood onset hearing loss, Childhood onset hearing loss
RS201908721 COQ8A Health Risk Pathogenic/Likely pathogenic Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS201909029 FGB Health Risk Conflicting classifications of pathogenicity Deep venous thrombosis, Congenital afibrinogenemia
RS201909075 SCO2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS201909286 DLL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201909472 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosis 2
RS201909756 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Neoplasm
RS201909863 CNGB1 Health Risk Conflicting classifications of pathogenicity —
RS201909971 DNAI2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 9, Primary ciliary dyskinesia
RS201909993 KCNJ2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Andersen Tawil syndrome
RS201910178 SPTA1 Health Risk Conflicting classifications of pathogenicity Pyropoikilocytosis, hereditary
RS201910266 PLEC Health Risk Conflicting classifications of pathogenicity —
RS201910666 HIVEP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201910962 PROM1 Health Risk Conflicting classifications of pathogenicity Stargardt disease 4, Retinal macular dystrophy type 2
RS201911056 UQCRC1 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS201911360 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS201911612 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS201911663 ERCC5 Health Risk Conflicting classifications of pathogenicity Cerebrooculofacioskeletal syndrome 3, Hereditary cancer-predisposing syndrome
RS201911803 PODXL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201911936 LARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201912053 APTX Health Risk Pathogenic/Likely pathogenic Ataxia, early-onset
RS201912073 ARHGEF10 Health Risk Conflicting classifications of pathogenicity —
RS201912170 TNS2 Health Risk Conflicting classifications of pathogenicity —
RS201912204 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Connective tissue disorder
RS201912847 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS201913251 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS201913568 SERPINB6 Health Risk Conflicting classifications of pathogenicity SERPINB6-related disorder, SERPINB6-related disorder
RS201913713 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, 3M syndrome 2
RS201913828 SYNE1 Health Risk Conflicting classifications of pathogenicity —
RS201913959 TXNRD2 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS201914334 ZNF423 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 14, Nephronophthisis 14
RS201914506 RYR3 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS201914670 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS201914846 RNF43 Health Risk Conflicting classifications of pathogenicity Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS201915086 CHRNB1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 2A
RS201915239 RNF168 Health Risk Pathogenic/Likely pathogenic RIDDLE syndrome, RNF168-related disorder
RS201915874 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS201915876 SCN9A Health Risk Conflicting classifications of pathogenicity Channelopathy-associated congenital insensitivity to pain, autosomal recessive
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