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
RS756891007 PEX2 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5B
RS756891047 SCP2 Health Risk Pathogenic —
RS756891880 FAM161A Health Risk Likely pathogenic —
RS756892237 NLRP3 Health Risk Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome, Cryopyrin associated periodic syndrome
RS756894409 ALG8 Health Risk Likely pathogenic ALG8 congenital disorder of glycosylation, Polycystic liver disease 3 with or without kidney cysts
RS756896276 CNTNAP1 Health Risk Pathogenic Neuropathy, congenital hypomyelinating
RS756896976 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS756897026 COL7A1 Health Risk Pathogenic Epidermolysis bullosa dystrophica, Epidermolysis bullosa simplex 1A
RS756897044 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS756897237 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS756897517 ENG Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS756897581 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS756898709 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS756898971 SIPA1L3 Health Risk Pathogenic Cataract 45, Cataract 45
RS756899044 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS756899141 KCNQ1 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiac arrhythmia
RS756902589 EIF2AK4 Health Risk Pathogenic Familial pulmonary capillary hemangiomatosis, Familial pulmonary capillary hemangiomatosis
RS756903507 GATA4 Health Risk Conflicting classifications of pathogenicity Atrioventricular septal defect 4, Cardiovascular phenotype
RS756903689 NMNAT1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 9, Leber congenital amaurosis 9
RS756905236 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS756906403 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS756907367 CNTN1 Health Risk Pathogenic Compton-North congenital myopathy, Compton-North congenital myopathy
RS756907665 SDCCAG8 Health Risk Likely pathogenic Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS756908062 NRXN1 Health Risk Pathogenic Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS756908183 F11 Health Risk Pathogenic/Likely pathogenic Hereditary factor XI deficiency disease, Abnormal bleeding
RS756909627 MTMR2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Inborn genetic diseases
RS756910200 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Spastic paraplegia
RS756910757 ABCC6 Health Risk Conflicting classifications of pathogenicity ABCC6-related disorder, ABCC6-related disorder
RS756911727 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group D2
RS756911979 JAG1 Health Risk Likely pathogenic Hepatic Ductular Hypoplasia, Hepatic Ductular Hypoplasia
RS756912142 AFG3L2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 28, Spinocerebellar ataxia type 28
RS756912205 PIGU Health Risk Pathogenic Glycosylphosphatidylinositol biosynthesis defect 21, Glycosylphosphatidylinositol biosynthesis defect 21
RS756912340 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS756912360 HEXB Health Risk Conflicting classifications of pathogenicity Sandhoff disease, Sandhoff disease
RS756912703 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10
RS756912930 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS756913474 TTC21B Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 4, Nephronophthisis 12
RS756916028 APOC2 Health Risk Likely pathogenic APOLIPOPROTEIN C-II (ST. MICHAEL), Familial apolipoprotein C-II deficiency
RS756916740 C2 Health Risk Conflicting classifications of pathogenicity —
RS756917060 MYOM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS756917169 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS756918282 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS756918960 OCA2 Health Risk Pathogenic/Likely pathogenic Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS756919162 FERRY3 Health Risk Likely pathogenic C12orf4-related disorder, C12orf4-related disorder
RS756919169 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS756920137 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS756920981 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS756921041 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS756921125 WWOX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS756921157 ALG14 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 15, Intellectual developmental disorder with epilepsy
RS756921209 EXT2 Health Risk Likely pathogenic Exostoses, multiple
RS756921311 IVNS1ABP Health Risk Pathogenic Immunodeficiency 70, Immunodeficiency 70
RS756921502 TBX6 Health Risk Conflicting classifications of pathogenicity Scoliosis, Scoliosis
RS756921902 KCNQ2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 7
RS756922825 HMCN1 Health Risk Conflicting classifications of pathogenicity —
RS756923555 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiomyopathy
RS756924858 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS756925801 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS756926807 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS756927098 SELENON Health Risk Pathogenic/Likely pathogenic Eichsfeld type congenital muscular dystrophy, Eichsfeld type congenital muscular dystrophy
RS756928158 GJB1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease X-linked dominant 1
RS756928373 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
RS756929892 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS756930611 NFKBIA Health Risk Conflicting classifications of pathogenicity Ectodermal dysplasia and immunodeficiency 2, Ectodermal dysplasia and immunodeficiency 2
RS756930722 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS756931255 LAMB2 Health Risk Conflicting classifications of pathogenicity Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS756931329 CPT2 Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form
RS756931963 CRB1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS756932413 BCS1L Health Risk Conflicting classifications of pathogenicity GRACILE syndrome, Leigh syndrome
RS756933390 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS756933506 ANK1 Health Risk Pathogenic —
RS756933588 LPIN2 Health Risk Pathogenic/Likely pathogenic Majeed syndrome, Majeed syndrome
RS756935130 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS756935530 MTFMT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756935554 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS756935623 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2
RS756938019 TUBA3D Health Risk Pathogenic Keratoconus 9, Keratoconus 9
RS756938071 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS756938942 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS756939943 TBC1D24 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy
RS756940046 ATP2A1 Health Risk Pathogenic Brody myopathy, Brody myopathy
RS756942664 B4GALT7 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome progeroid type, Ehlers-Danlos syndrome
RS756942804 SZT2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 18
RS756942890 ALG1 Health Risk Conflicting classifications of pathogenicity ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS756943416 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS756943739 IQCB1 Health Risk Pathogenic Senior-Loken syndrome 5, Senior-Loken syndrome 5
RS756944795 FLCN Health Risk Conflicting classifications of pathogenicity Familial spontaneous pneumothorax, Birt-Hogg-Dube syndrome
RS756945139 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS756945300 NTHL1 Health Risk Conflicting classifications of pathogenicity —
RS756946393 WNT10A Health Risk Pathogenic Tooth agenesis, selective
RS756946899 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS756947754 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Autism
RS756948486 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS756948772 DDX11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Warsaw breakage syndrome
RS756948868 STXBP2 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS756949024 COL4A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS756949497 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS756949505 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS756950169 LIPA Health Risk Conflicting classifications of pathogenicity Wolman disease, Cardiovascular phenotype
RS756950646 ARHGAP24 Health Risk Conflicting classifications of pathogenicity —
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