SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS912239987 OFD1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Orofaciodigital syndrome I
RS912256328 MMP21 Health Risk Conflicting classifications of pathogenicity Heterotaxy, visceral
RS912318281 PDHX Health Risk Pathogenic —
RS912372716 TTN Health Risk Conflicting classifications of pathogenicity —
RS912374533 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS912378886 CREB3L3 Health Risk Pathogenic/Likely pathogenic Hypertriglyceridemia 2, Hypertriglyceridemia 2
RS912390081 CHM Health Risk Conflicting classifications of pathogenicity —
RS912429154 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant cerebellar ataxia
RS912441212 LIPA Health Risk Conflicting classifications of pathogenicity Lysosomal acid lipase deficiency, Wolman disease
RS912444962 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS912460897 DNAAF5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS912537449 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group C
RS912546325 AFG3L2 Health Risk Conflicting classifications of pathogenicity Optic atrophy, Optic atrophy 12
RS912556508 POMT1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
RS912572166 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS912591669 ADAMTS18 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS912662531 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS912671116 COL6A3 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS912754275 BBIP1 Health Risk Conflicting classifications of pathogenicity BBIP1-related disorder, Bardet-Biedl syndrome 18
RS912777535 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS912779029 RPL5 Health Risk Pathogenic Diamond-Blackfan anemia, Diamond-Blackfan anemia
RS912864418 TTN Health Risk Conflicting classifications of pathogenicity —
RS912870237 AHDC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS912914100 ADA Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS912922347 SLC6A5 Health Risk Pathogenic Hyperekplexia 3, Hyperekplexia 3
RS912926530 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS912928648 INF2 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease
RS912951002 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS912967826 BBS4 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS912980910 USH2A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 39
RS912983346 SPG7 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia 7
RS912986968 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS912988587 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS913030626 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa
RS913040375 PEX16 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS913064158 AIMP1 Health Risk Likely pathogenic —
RS913073947 SLC6A1 Health Risk Conflicting classifications of pathogenicity Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS913104799 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS913138802 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS913197212 MTOR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS913201162 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS913231421 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS913248720 SGCG Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS913334458 ABCC8 Health Risk Conflicting classifications of pathogenicity Leucine-induced hypoglycemia, Hyperinsulinemic hypoglycemia
RS913435613 MAT1A Health Risk Pathogenic/Likely pathogenic Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
RS913461789 XDH Health Risk Conflicting classifications of pathogenicity Xanthinuria type II, Hereditary xanthinuria type 1
RS913477149 RFT1 Health Risk Likely pathogenic RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation
RS913487671 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS913535107 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS913561874 DNMT3A Health Risk Conflicting classifications of pathogenicity Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS913644236 ABCB11 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS913653009 FITM2 Health Risk Likely pathogenic Siddiqi syndrome, Siddiqi syndrome
RS913673846 SMARCA4 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS913692200 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS913720556 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS913722609 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Isolated focal cortical dysplasia type II
RS913756108 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS913764481 HGSNAT Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 73, Mucopolysaccharidosis
RS913794924 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS913833582 INF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease dominant intermediate E
RS913893905 TRAPPC9 Health Risk Pathogenic —
RS913934445 GJB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth Neuropathy X
RS913991716 HPS1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS914018183 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS914027156 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
RS914046953 HNF1B Health Risk Likely pathogenic Renal cysts and diabetes syndrome, HNF1B-related disorder
RS914061514 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS914062190 BBS4 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 4, Bardet-Biedl syndrome
RS914090288 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS914092098 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS914146516 TANGO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS914166042 ABCB4 Health Risk Conflicting classifications of pathogenicity —
RS914180720 OTOF Health Risk Conflicting classifications of pathogenicity —
RS914189193 MYO7A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS914207699 GNPTG Health Risk Conflicting classifications of pathogenicity GNPTG-mucolipidosis, GNPTG-related disorder
RS914238978 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS914249018 MOCS2 Health Risk Conflicting classifications of pathogenicity Combined molybdoflavoprotein enzyme deficiency, Combined molybdoflavoprotein enzyme deficiency
RS914258252 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS914288774 TTN Health Risk Likely pathogenic 6 conditions, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS914316483 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS914357651 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS914395925 LAMA2 Health Risk Pathogenic/Likely pathogenic Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS914396317 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS914414911 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2N, Charcot-Marie-Tooth disease type 2
RS914422460 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Cystic fibrosis
RS914435870 PIEZO1 Health Risk Pathogenic/Likely pathogenic Hydrops fetalis, Thickened nuchal skin fold
RS914460959 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS914488914 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS914536172 SLC45A2 Health Risk Pathogenic —
RS914538363 GRN Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 11, GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
RS914542176 ABCA4 Health Risk Likely pathogenic —
RS914586984 SCN4A Health Risk Pathogenic Potassium-aggravated myotonia, Potassium-aggravated myotonia
RS914610419 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 1
RS914628341 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS914675446 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, DNAH5-related disorder
RS914683099 LMX1B Health Risk Conflicting classifications of pathogenicity Nail-patella syndrome, Nail-patella syndrome
RS914781832 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS914793719 TRMU Health Risk Likely pathogenic Aminoglycoside-induced deafness, Aminoglycoside-induced deafness
RS914804033 RYR1 Health Risk Likely pathogenic Malignant hyperthermia of anesthesia, RYR1-related disorder
RS914878176 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Alport syndrome
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