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
RS563858170 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS563865467 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS563866464 SLC39A7 Health Risk Pathogenic Agammaglobulinemia 9, autosomal recessive
RS56388024 SERPINA1 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, SERPINA1-related disorder
RS563881487 TAOK2 Health Risk Conflicting classifications of pathogenicity —
RS563885946 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS563887822 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS563896817 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS563903739 SRPRB Health Risk Conflicting classifications of pathogenicity —
RS56390402 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS56391007 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Hereditary cancer-predisposing syndrome
RS563916447 SH3TC2 Health Risk Conflicting classifications of pathogenicity Susceptibility to mononeuropathy of the median nerve, mild
RS56391938 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1G
RS563922134 ASS1 Health Risk Pathogenic Citrullinemia, Citrullinemia
RS563928852 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Inborn genetic diseases
RS56393026 WFS1 Health Risk Conflicting classifications of pathogenicity Autistic behavior, Autosomal dominant nonsyndromic hearing loss 6
RS56394008 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS563943670 MSTO1 Health Risk Pathogenic/Likely pathogenic Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, Inborn genetic diseases
RS56394801 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group C, Fanconi anemia
RS563954136 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS563954985 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS563966600 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS563967757 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS563969986 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS563971993 CA5A Health Risk Pathogenic/Likely pathogenic Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency, Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
RS563972504 F7 Health Risk Likely pathogenic Congenital factor VII deficiency, Congenital factor VII deficiency
RS563972840 NTRK2 Health Risk Conflicting classifications of pathogenicity —
RS563974183 NLRP12 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 2, Inborn genetic diseases
RS563975281 VPS35 Health Risk Conflicting classifications of pathogenicity Parkinson disease 17, Parkinson disease 17
RS563989825 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS563990655 POLE Health Risk Conflicting classifications of pathogenicity Carcinoma of colon, Hereditary cancer-predisposing syndrome
RS56399205 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Dilated cardiomyopathy 1G
RS56399311 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS563998083 EGLN1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS56399857 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS56400215 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS56400844 CXCR4 Health Risk Conflicting classifications of pathogenicity Warts, hypogammaglobulinemia
RS564009118 AP3D1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS564010604 OBSL1 Health Risk Conflicting classifications of pathogenicity —
RS564013823 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP3-related disorder
RS564016323 RAB3GAP2 Health Risk Conflicting classifications of pathogenicity Martsolf syndrome, Warburg micro syndrome 2
RS56402642 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases
RS564028722 CHST3 Health Risk Conflicting classifications of pathogenicity Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
RS564030306 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS56403624 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BRCA2-related cancer predisposition
RS564039071 FREM1 Health Risk Conflicting classifications of pathogenicity Oculotrichoanal syndrome, BNAR syndrome
RS564039694 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS564040169 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS564041158 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS564046722 SPTBN2 Health Risk Conflicting classifications of pathogenicity —
RS56404770 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS564049659 ABCA1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS564053026 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS564069299 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia
RS564071879 ABCC9 Health Risk Conflicting classifications of pathogenicity Hypertrichotic osteochondrodysplasia Cantu type, Dilated cardiomyopathy 1O
RS564072063 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5C
RS564074916 CLN8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Inborn genetic diseases
RS564087840 COL11A2 Health Risk Conflicting classifications of pathogenicity Otospondylomegaepiphyseal dysplasia, autosomal recessive
RS564097106 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS564097272 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS564101364 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS564107029 COQ6 Health Risk Conflicting classifications of pathogenicity —
RS564110189 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 1, Familial hyperinsulinism
RS56411159 POLG Health Risk Conflicting classifications of pathogenicity POLG-related disorder, Progressive sclerosing poliodystrophy
RS564113854 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related disorder
RS56411694 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Mastocytosis
RS564117765 OTOGL Health Risk Pathogenic —
RS564117935 DNAH2 Health Risk Conflicting classifications of pathogenicity DNAH2-related disorder, Spermatogenic failure 45
RS564129447 PDX1 Health Risk Conflicting classifications of pathogenicity Pancreatic agenesis 1, Type 2 diabetes mellitus
RS564132747 IMPDH1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS56414190 PLK4 Health Risk Conflicting classifications of pathogenicity —
RS564143545 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Inborn genetic diseases
RS564144826 SOX17 Health Risk Conflicting classifications of pathogenicity Chronic kidney disease, SOX17-related disorder
RS564145037 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS564147469 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS564154904 DNMT3B Health Risk Conflicting classifications of pathogenicity Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Centromeric instability of chromosomes 1
RS564161331 MC1R Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS564164674 DACT1 Health Risk Conflicting classifications of pathogenicity Townes-Brocks syndrome 2, Townes-Brocks syndrome 2
RS564168844 ZNF335 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS564169177 OTOF Health Risk Pathogenic Auditory neuropathy spectrum disorder, Auditory neuropathy spectrum disorder
RS564171625 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS564172046 ALG12 Health Risk Conflicting classifications of pathogenicity ALG12-congenital disorder of glycosylation, Hepatocellular carcinoma
RS564175632 LRRK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS564181825 NTHL1 Health Risk Conflicting classifications of pathogenicity NTHL1-related disorder, Familial adenomatous polyposis 3
RS564185858 ADD3 Health Risk Pathogenic/Likely pathogenic Cerebral palsy, spastic quadriplegic
RS564196683 MAST4 Health Risk Likely pathogenic Infantile spasms, Infantile spasms
RS564197072 CRYGD Health Risk Conflicting classifications of pathogenicity Cataract 4 multiple types, Aculeiform cataract
RS564197624 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS564200357 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS564202359 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS564223313 PTDSS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS564224919 DICER1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS564226533 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS564232197 NPHP4 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS564232908 BLOC1S6 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 9, Inborn genetic diseases
RS564234285 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Autoinflammatory syndrome
RS564245730 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS564248341 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS564258872 LDLR Health Risk Pathogenic/Likely pathogenic —
RS564280688 MMACHC Health Risk Conflicting classifications of pathogenicity Cobalamin C disease, Cobalamin C disease
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