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
RS778872550 SCNN1A Health Risk Pathogenic —
RS778872619 WRN Health Risk Pathogenic/Likely pathogenic Werner syndrome, Werner syndrome
RS778873369 ERCC6 Health Risk Conflicting classifications of pathogenicity —
RS778874286 RARS1 Health Risk Likely pathogenic —
RS778874587 COA8 Health Risk Likely pathogenic Mitochondrial complex IV deficiency, nuclear type 17
RS778874813 KANK1 Health Risk Conflicting classifications of pathogenicity —
RS778875017 MFSD8 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS778875319 EXOSC9 Health Risk Pathogenic —
RS778876865 ADGRG1 Health Risk Pathogenic —
RS778878007 ADGRV1 Health Risk Likely pathogenic Febrile seizures, familial
RS778878523 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS778879465 MECR Health Risk Likely pathogenic —
RS778879482 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS778879572 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS778879752 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778881191 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS778881311 TYR Health Risk Pathogenic/Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS778882347 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS778882385 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Inborn genetic diseases
RS778883995 ASXL1 Health Risk Conflicting classifications of pathogenicity —
RS778884136 CNGB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 45, Retinitis pigmentosa 45
RS778884343 TSEN54 Health Risk Pathogenic —
RS778885038 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS778885362 MYPN Health Risk Pathogenic Nemaline myopathy, Nemaline myopathy
RS778886055 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS778886174 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Autosomal recessive Alport syndrome
RS778886674 ANKLE2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS778888033 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS778888582 VPS13D Health Risk Pathogenic —
RS778889239 COL4A4 Health Risk Conflicting classifications of pathogenicity Hematuria, benign familial
RS778890170 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS778890192 DNASE2 Health Risk Conflicting classifications of pathogenicity Thyroid cancer, nonmedullary
RS778890495 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS778890869 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS778891426 EPHB4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS778891510 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS778892054 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS778892614 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS778895502 CYP21A2 Health Risk Likely pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS778895549 SIX3 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 2, Holoprosencephaly 2
RS778895906 CPT2 Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyltransferase II deficiency, Encephalopathy
RS778896112 UNG Health Risk Pathogenic Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5
RS778896252 PKD2 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS778898472 IFT172 Health Risk Pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS778899140 PDE10A Health Risk Pathogenic/Likely pathogenic Infantile-onset generalized dyskinesia with orofacial involvement, Global developmental delay
RS778899637 KAT6B Health Risk Conflicting classifications of pathogenicity Seizure, Macrocephaly
RS778899897 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS778900414 SDCCAG8 Health Risk Pathogenic Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS778900586 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS778900632 RHOBTB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778901546 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS778901860 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Pendred syndrome
RS778902849 GFM1 Health Risk Pathogenic/Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, GFM1-related disorder
RS778903567 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS778904029 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS778904376 CHD8 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS778905320 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Lymphangiomyomatosis
RS778905999 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS778906552 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS778907270 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS778907433 CEP290 Health Risk Pathogenic/Likely pathogenic Rod-cone dystrophy, Meckel-Gruber syndrome
RS778908038 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS778908435 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS778909076 LARP7 Health Risk Pathogenic Intellectual disability, Epileptic encephalopathy
RS778909108 COL18A1 Health Risk Pathogenic/Likely pathogenic —
RS778909195 STRC Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 16, Deafness-infertility syndrome
RS778909774 LDLRAP1 Health Risk Pathogenic Hypercholesterolemia, familial
RS778909787 LZTR1 Health Risk Conflicting classifications of pathogenicity —
RS778911925 OPTN Health Risk Pathogenic Amyotrophic lateral sclerosis type 12, Primary open angle glaucoma
RS778912582 AR Health Risk Conflicting classifications of pathogenicity Androgen resistance syndrome, Kennedy disease
RS778912710 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS778912711 CASZ1 Health Risk Conflicting classifications of pathogenicity —
RS778913429 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1
RS778914092 TYMP Health Risk Pathogenic —
RS778914298 CAV3 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Elevated circulating creatine kinase concentration
RS778914409 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation
RS778914414 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS778914828 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS778915456 ABCA12 Health Risk Conflicting classifications of pathogenicity —
RS778915520 SPINK5 Health Risk Conflicting classifications of pathogenicity Ichthyosis linearis circumflexa, Netherton syndrome
RS778915635 ADGRG1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778916092 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS778917289 NEXMIF Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS778918483 FN1 Health Risk Conflicting classifications of pathogenicity —
RS778920556 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS778920824 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Lymphatic malformation 6
RS778920875 LAMC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS778920950 CPT1A Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS778921032 KIF5A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 10, Spastic paraplegia
RS778921118 SHOX Health Risk Pathogenic SHOX-related short stature, SHOX-related short stature
RS778921174 DUOX2 Health Risk Pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS778921501 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS778922005 GJB2 Health Risk Conflicting classifications of pathogenicity Ichthyosis, hystrix-like
RS778922921 HIBCH Health Risk Pathogenic 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency
RS77892378 ALB Health Risk Pathogenic Hyperthyroxinemia, familial dysalbuminemic
RS778925833 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS778926161 ERCC6L2 Health Risk Pathogenic/Likely pathogenic Pancytopenia-developmental delay syndrome, ERCC6L2-related disorder
RS778928295 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS778929272 COL11A2 Health Risk Pathogenic Monogenic hearing loss, Otospondylomegaepiphyseal dysplasia
RS778930556 LRP5 Health Risk Pathogenic Exudative vitreoretinopathy 4, Exudative vitreoretinopathy 4
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