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
RS116239086 CCBE1 Health Risk Conflicting classifications of pathogenicity —
RS1162394508 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS116239777 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS1162414657 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS1162424416 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1162425274 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1162447958 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS116246250 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Retinitis pigmentosa
RS1162464868 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS116247954 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS1162493574 SPAST Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary spastic paraplegia 4
RS1162494442 CHD5 Health Risk Likely pathogenic Global developmental delay, Seizure
RS1162522193 TCF20 Health Risk Likely pathogenic —
RS1162525540 CD151 Health Risk Conflicting classifications of pathogenicity RAPH BLOOD GROUP SYSTEM, Epidermolysis bullosa simplex 7
RS1162525817 PEX13 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger)
RS1162526607 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS1162530361 SLC12A6 Health Risk Pathogenic/Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Charcot-Marie-Tooth disease
RS1162532498 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1162534390 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS116253689 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS116254142 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS116254382 NDUFA10 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS1162544118 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS1162552295 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2O
RS1162553327 NEB Health Risk Pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS116256579 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1162584542 CDKN2A Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS1162586274 PDZD7 Health Risk Pathogenic —
RS1162597563 COL11A1 Health Risk Pathogenic —
RS1162601696 COL4A4 Health Risk Pathogenic/Likely pathogenic Benign familial hematuria, Autosomal recessive Alport syndrome
RS116262072 BBS9 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 9
RS1162633293 UMOD Health Risk Likely pathogenic Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS1162635365 CSPP1 Health Risk Likely pathogenic Joubert syndrome 21, Joubert syndrome 21
RS116263919 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, POLE-related disorder
RS1162641847 CEP83 Health Risk Pathogenic Nephronophthisis 18, Nephronophthisis 18
RS116264627 KANK1 Health Risk Conflicting classifications of pathogenicity —
RS1162654150 COL4A4 Health Risk Conflicting classifications of pathogenicity Hematuria, benign familial
RS1162659137 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS1162661952 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS1162671660 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1162681591 PDGFRB Health Risk Conflicting classifications of pathogenicity Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome, Acroosteolysis-keloid-like lesions-premature aging syndrome
RS116269563 PAPPA2 Health Risk Pathogenic —
RS1162696593 TNNI3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS1162711197 SETD2 Health Risk Conflicting classifications of pathogenicity Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma
RS1162732075 CHD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1162745955 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS1162750836 MFSD8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS1162759892 HR Health Risk Pathogenic —
RS1162767709 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS1162770123 ORC1 Health Risk Pathogenic Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1
RS1162780893 SMAD9 Health Risk Pathogenic Pulmonary hypertension, primary
RS1162787335 SLC4A1 Health Risk Pathogenic Hereditary spherocytosis type 4, Hereditary spherocytosis type 4
RS1162794351 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type B
RS1162797495 RTN2 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Hereditary spastic paraplegia 12
RS1162799877 ANK2 Health Risk Likely pathogenic ANK2-related disorder, ANK2-related disorder
RS1162806402 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1162809128 INTS1 Health Risk Pathogenic Neurodevelopmental disorder with cataracts, poor growth
RS1162814122 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS1162823375 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1162831467 PAH Health Risk Pathogenic/Likely pathogenic Phenylketonuria, Inborn genetic diseases
RS1162831950 CPT1A Health Risk Pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS116283249 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS1162846901 RAD50 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1162851273 ABCC6 Health Risk Pathogenic —
RS1162905063 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1162933116 ABCB11 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS1162942997 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS1162948308 MMADHC Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS1162953058 OTUD7A Health Risk Pathogenic Specific learning disability, Language disorder
RS1162953685 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS116297260 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Hereditary spherocytosis type 3
RS116297894 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS116298211 AK7 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 27, Spermatogenic failure 27
RS1162988139 SLC27A5 Health Risk Conflicting classifications of pathogenicity —
RS1162998218 PCCA Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS1163007321 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS116300982 GUF1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 40
RS1163013218 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS116302615 SLC26A2 Health Risk Conflicting classifications of pathogenicity Achondrogenesis, type IB
RS1163037065 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1163040913 RDH12 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Leber congenital amaurosis 13
RS116304324 ZNF407 Health Risk Conflicting classifications of pathogenicity —
RS1163046936 LINS1 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 27
RS1163049039 PPM1D Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
RS1163061829 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS116306908 VLDLR Health Risk Conflicting classifications of pathogenicity VLDLR-related disorder, Lung cancer
RS1163069592 TK2 Health Risk Pathogenic —
RS1163072872 ACAT1 Health Risk Pathogenic/Likely pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS1163089098 EYS Health Risk Pathogenic —
RS1163091441 ALDOB Health Risk Pathogenic/Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS116310349 TMPRSS6 Health Risk Conflicting classifications of pathogenicity Microcytic anemia, TMPRSS6-related disorder
RS1163109289 SLC16A2 Health Risk Likely pathogenic —
RS1163121743 SLC34A1 Health Risk Conflicting classifications of pathogenicity Fanconi renotubular syndrome 2, Hypercalcemia
RS116314059 INVS Health Risk Conflicting classifications of pathogenicity Nephronophthisis, INVS-related disorder
RS116314131 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS116314856 COG7 Health Risk Conflicting classifications of pathogenicity COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
RS116314916 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Inborn genetic diseases
RS1163156807 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS116315896 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS1163159065 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy
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