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
RS1476153727 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS147615538 LPIN2 Health Risk Conflicting classifications of pathogenicity Majeed syndrome, Autoinflammatory syndrome
RS1476157529 DIAPH1 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 1, Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
RS1476160722 ERCC2 Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum, Cerebrooculofacioskeletal syndrome 2
RS1476164063 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS147617265 ARFGEF2 Health Risk Conflicting classifications of pathogenicity —
RS147617631 B4GALT7 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome progeroid type
RS147617753 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS1476185218 SLC4A1 Health Risk Likely pathogenic —
RS1476186922 SLC6A5 Health Risk Conflicting classifications of pathogenicity Hyperekplexia 3, Hyperekplexia 3
RS147618989 LRP5 Health Risk Conflicting classifications of pathogenicity Exudative vitreoretinopathy 4, Exudative vitreoretinopathy 4
RS1476190682 SLC26A4 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS1476192724 OCA2 Health Risk Pathogenic Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS147619585 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS147619875 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS147620098 GFM1 Health Risk Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS1476205467 ALMS1 Health Risk Pathogenic Alstrom syndrome, Retinal dystrophy
RS147620917 MAPKBP1 Health Risk Conflicting classifications of pathogenicity MAPKBP1-related disorder, Nephronophthisis 20
RS147621000 TTC7A Health Risk Conflicting classifications of pathogenicity Multiple gastrointestinal atresias, Multiple gastrointestinal atresias
RS147621330 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS147622037 PLOD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1476222580 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS147622433 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS147622517 NEBL Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Primary dilated cardiomyopathy
RS147622852 PIGW Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 5, Hyperphosphatasia with intellectual disability syndrome 5
RS147623093 ABCC8 Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Diabetes mellitus
RS1476231535 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS147623238 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS147623367 VCP Health Risk Conflicting classifications of pathogenicity Inclusion body myopathy with Paget disease of bone and frontotemporal dementia, Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
RS147623570 CA5A Health Risk Conflicting classifications of pathogenicity Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
RS147624408 FOXP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1476248618 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS147625451 WDR81 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147625714 LIM2 Health Risk Conflicting classifications of pathogenicity Cataract 19 multiple types, Cataract 19 multiple types
RS147626427 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS147627228 NFKBIA Health Risk Conflicting classifications of pathogenicity Ectodermal dysplasia and immunodeficiency 2, Inborn genetic diseases
RS1476273214 ACAT1 Health Risk Pathogenic Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS1476276192 RUNX1 Health Risk Likely pathogenic Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1, Hereditary thrombocytopenia and hematologic cancer predisposition syndrome
RS147627800 FN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Glomerulopathy with fibronectin deposits 2
RS1476279884 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1476284330 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS147628503 JUP Health Risk Conflicting classifications of pathogenicity Ventricular fibrillation, paroxysmal familial
RS147628922 DRC4 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 33, Inborn genetic diseases
RS147629352 OCRL Health Risk Conflicting classifications of pathogenicity Lowe syndrome, OCRL-related disorder
RS1476293577 POGZ Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS147630334 ADCY5 Health Risk Conflicting classifications of pathogenicity —
RS147630375 YARS2 Health Risk Conflicting classifications of pathogenicity Myopathy, lactic acidosis
RS147630771 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS147631017 NLRP3 Health Risk Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome, Keratitis fugax hereditaria
RS147631683 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS1476325987 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS147632759 RP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147632811 FA2H Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 35
RS147633212 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, 7 conditions
RS147633236 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS147633291 CR2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS147633551 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS147633715 HSPG2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, HSPG2-related disorder
RS147633804 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Susceptibility to mononeuropathy of the median nerve
RS1476338953 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS1476347603 LPIN1 Health Risk Pathogenic —
RS147635062 ITGB4 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa, junctional 5A
RS147635290 TRPM6 Health Risk Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1, Inborn genetic diseases
RS147636046 ITCH Health Risk Conflicting classifications of pathogenicity Syndromic multisystem autoimmune disease due to ITCH deficiency, Syndromic multisystem autoimmune disease due to ITCH deficiency
RS147636995 CAMTA1 Health Risk Conflicting classifications of pathogenicity Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities
RS147637331 ERCC6 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1
RS147637431 LRP5 Health Risk Conflicting classifications of pathogenicity —
RS147637674 COL11A1 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 1, Stickler syndrome type 2
RS147637814 MMAB Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria, cblB type
RS147638245 CR2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS147638721 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS147639509 TRIM37 Health Risk Conflicting classifications of pathogenicity Mulibrey nanism syndrome, TRIM37-related disorder
RS147639592 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS147639719 MMP10 Health Risk Conflicting classifications of pathogenicity —
RS147640811 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS147640909 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS1476409946 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS147641443 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Retinitis pigmentosa
RS1476415689 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS147641617 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS147641822 CTSD Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 10
RS147641839 PIEZO2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147643230 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica inversa, autosomal recessive
RS147643985 TCF20 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1476442868 KMT2E Health Risk Pathogenic O'Donnell-Luria-Rodan syndrome, O'Donnell-Luria-Rodan syndrome
RS147644451 TBX4 Health Risk Conflicting classifications of pathogenicity Coxopodopatellar syndrome, Inborn genetic diseases
RS147644722 MTM1 Health Risk Pathogenic Severe X-linked myotubular myopathy, Severe X-linked myotubular myopathy
RS1476448476 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS1476453955 CHRNA1 Health Risk Pathogenic/Likely pathogenic —
RS1476458284 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS147646506 ADCY5 Health Risk Pathogenic/Likely pathogenic —
RS147647278 DOLK Health Risk Conflicting classifications of pathogenicity DK1-congenital disorder of glycosylation, Cardiovascular phenotype
RS147647315 SLC22A12 Health Risk Conflicting classifications of pathogenicity Dalmatian hypouricemia, Dalmatian hypouricemia
RS147648163 SFXN4 Health Risk Pathogenic —
RS147648235 ITGA7 Health Risk Pathogenic Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS1476485007 OTOG Health Risk Likely pathogenic OTOG-related disorder, OTOG-related disorder
RS147649016 ABCB11 Health Risk Pathogenic/Likely pathogenic Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS1476500325 UGT1A1 Health Risk Pathogenic UGT1A1-related disorder, UGT1A1-related disorder
RS147650424 SRCAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1476505138 DYSF Health Risk Pathogenic/Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Distal myopathy with anterior tibial onset
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