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
RS200303699 HCN4 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 8, Brugada syndrome 8
RS200303989 RORC Health Risk Conflicting classifications of pathogenicity Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, Inborn genetic diseases
RS200304191 RYR3 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS200304547 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS200304584 BDP1 Health Risk Conflicting classifications of pathogenicity BDP1-related disorder, BDP1-related disorder
RS200305064 UMPS Health Risk Conflicting classifications of pathogenicity Oroticaciduria, Hereditary orotic aciduria
RS200305444 SPEG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200305545 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS200305811 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS200305944 EPG5 Health Risk Conflicting classifications of pathogenicity Vici syndrome, Inborn genetic diseases
RS200306164 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS200306249 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS200306755 INS Health Risk Conflicting classifications of pathogenicity Transient Neonatal Diabetes, Dominant/Recessive
RS200306812 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS200306863 HR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200306885 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RAI1-related disorder
RS200307006 SCN8A Health Risk Likely pathogenic SCN8A-related disorder, SCN8A-related disorder
RS200307027 EIF2AK3 Health Risk Pathogenic Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS200307392 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, NEB-related disorder
RS200308077 MME Health Risk Conflicting classifications of pathogenicity —
RS200308291 CACNA1B Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements, Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
RS200308788 SPTA1 Health Risk Conflicting classifications of pathogenicity Pyropoikilocytosis, hereditary
RS200309017 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS200309191 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS200309328 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS200309400 EYA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1J, Autosomal dominant nonsyndromic hearing loss 10
RS200309694 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS200309704 RYR3 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, RYR3-related disorder
RS200309792 DNA2 Health Risk Conflicting classifications of pathogenicity Microcephaly, DNA2-related disorder
RS200309940 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS200310048 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, PNPLA6-related disorder
RS200310258 TCF20 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200310743 AP1S1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200310916 DNAH14 Health Risk Conflicting classifications of pathogenicity —
RS200310925 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, SLX4-related disorder
RS200311104 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, LRP2-related disorder
RS200311463 PDE6H Health Risk Conflicting classifications of pathogenicity PDE6H-related disorder, Retinal dystrophy
RS200312028 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS200312072 MAPK8IP3 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without variable brain abnormalities, NEDBA
RS200312077 AAAS Health Risk Conflicting classifications of pathogenicity —
RS200312379 MUSK Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
RS200312496 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Autoinflammatory syndrome
RS200312817 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS200313142 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS200313391 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11
RS200314049 COL4A2 Health Risk Conflicting classifications of pathogenicity —
RS200314088 PKD2 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 2, Autosomal dominant polycystic kidney disease
RS200314496 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS200314808 ATL1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory
RS200315616 EIF2AK3 Health Risk Conflicting classifications of pathogenicity Wolcott-Rallison dysplasia, EIF2AK3-related disorder
RS200316080 SNTA1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS200316691 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS200316862 MOCS1 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS200316891 ACTN2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1AA
RS200316980 SLCO2A1 Health Risk Pathogenic Hypertrophic osteoarthropathy, primary
RS200317113 IRF2BPL Health Risk Conflicting classifications of pathogenicity —
RS200317239 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS200317240 LONP1 Health Risk Conflicting classifications of pathogenicity CODAS syndrome, Inborn genetic diseases
RS200317412 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS200317443 MYLK3 Health Risk Conflicting classifications of pathogenicity —
RS200317870 THSD4 Health Risk Conflicting classifications of pathogenicity THSD4-related disorder, THSD4-related disorder
RS200318013 RYR2 Health Risk Conflicting classifications of pathogenicity Conduction disorder of the heart, Cardiomyopathy
RS200318120 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 25
RS200318170 TSEN54 Health Risk Conflicting classifications of pathogenicity Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
RS200318543 TENM4 Health Risk Conflicting classifications of pathogenicity TENM4-related disorder, TENM4-related disorder
RS200318708 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS200318788 ATP2C2 Health Risk Conflicting classifications of pathogenicity —
RS200318916 SERPINE1 Health Risk Conflicting classifications of pathogenicity Congenital plasminogen activator inhibitor type 1 deficiency, Congenital plasminogen activator inhibitor type 1 deficiency
RS200319106 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS200319160 MFSD8 Health Risk Pathogenic Late-infantile neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 7
RS200319381 PSAP Health Risk Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency, Metachromatic leukodystrophy
RS200319405 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS200319641 ERMARD Health Risk Conflicting classifications of pathogenicity —
RS200319726 FAH Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, FAH-related disorder
RS200319789 ARMC12 Health Risk Pathogenic Spermatogenic failure 90, Spermatogenic failure 90
RS200319927 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS200319996 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Ehlers-Danlos syndrome
RS200320496 MVK Health Risk Conflicting classifications of pathogenicity Porokeratosis 3, disseminated superficial actinic type
RS200320654 TINF2 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, TINF2-related disorder
RS200320780 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP4-related disorder
RS200320892 KCNJ1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 2, Bartter syndrome
RS200320916 KCNJ10 Health Risk Conflicting classifications of pathogenicity EAST syndrome, Inborn genetic diseases
RS200320927 CR2 Health Risk Likely pathogenic Immunodeficiency, common variable
RS200321110 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS200321180 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS200321595 DNAAF11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia 19, Heterotaxy
RS200321673 DISP1 Health Risk Conflicting classifications of pathogenicity Microform holoprosencephaly, Microform holoprosencephaly
RS200321839 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS200322118 POLE Health Risk Conflicting classifications of pathogenicity POLE-related disorder, POLE-related disorder
RS200322526 CHMP2B Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, CHMP2B-related disorder
RS200322894 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS200322968 WDPCP Health Risk Conflicting classifications of pathogenicity Heart defect - tongue hamartoma - polysyndactyly syndrome, Bardet-Biedl syndrome
RS200323140 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS200323556 SIM1 Health Risk Conflicting classifications of pathogenicity SIM1-related disorder, Inborn genetic diseases
RS200324164 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1
RS200324179 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, ATP7B-related disorder
RS200324241 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, CDH23-related disorder
RS200324356 CCNF;TBC1D24 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS200324539 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS200324989 TRRAP Health Risk Conflicting classifications of pathogenicity TRRAP-related disorder, TRRAP-related disorder
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