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
RS747130165 CEP164 Health Risk Pathogenic Nephronophthisis 15, Nephronophthisis 15
RS747130246 LRSAM1 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease
RS747130957 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Dilated cardiomyopathy 1G
RS747131454 JAK3 Health Risk Pathogenic/Likely pathogenic T-B+ severe combined immunodeficiency due to JAK3 deficiency, T-B+ severe combined immunodeficiency due to JAK3 deficiency
RS747133313 COL9A2 Health Risk Conflicting classifications of pathogenicity Epiphyseal dysplasia, multiple
RS747134711 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS747135310 TCTN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Meckel syndrome
RS747136051 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS747136174 AHDC1 Health Risk Conflicting classifications of pathogenicity AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome, Inborn genetic diseases
RS747136342 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS747136651 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS747136766 CACNA1D Health Risk Conflicting classifications of pathogenicity Hearing impairment, Hearing impairment
RS747138265 FOXG1 Health Risk Conflicting classifications of pathogenicity FOXG1 disorder, Inborn genetic diseases
RS747138345 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS747138507 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS747138950 NANS;TRIM14 Health Risk Pathogenic —
RS747139265 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS747139295 CFTR Health Risk Pathogenic Obstructive azoospermia, Obstructive azoospermia
RS747139582 SLC12A3 Health Risk Pathogenic/Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS747140161 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS747140718 WNK1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS747142039 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Tetralogy of Fallot
RS747142680 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS747143343 SMPD1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type A
RS747143752 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS747144008 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Inborn genetic diseases
RS747146523 ANO5 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS747148023 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS747148416 FOXE3 Health Risk Conflicting classifications of pathogenicity Congenital primary aphakia, Anterior segment dysgenesis
RS747148568 PLXNA1 Health Risk Conflicting classifications of pathogenicity —
RS747149179 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS747149353 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS747150559 C3 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 9, Complement component 3 deficiency
RS747150601 COQ8A Health Risk Pathogenic Autosomal recessive ataxia due to ubiquinone deficiency, Autosomal recessive ataxia due to ubiquinone deficiency
RS747150965 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS747153406 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS747153940 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS747154237 NAGS Health Risk Conflicting classifications of pathogenicity Hyperammonemia, type III
RS747154432 POLG Health Risk Conflicting classifications of pathogenicity POLG-related disorder, Progressive sclerosing poliodystrophy
RS747155575 GBE1 Health Risk Conflicting classifications of pathogenicity Adult polyglucosan body disease, Glycogen storage disease
RS747155741 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Autosomal dominant nonsyndromic hearing loss 11
RS747155746 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS747157774 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, AIP-related disorder
RS747159785 EXPH5 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa simplex 4, localized or generalized intermediate
RS747159816 BBS12 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 12
RS747160538 ADAMTSL4 Health Risk Pathogenic/Likely pathogenic Ectopia lentis et pupillae, Ectopia lentis 2
RS747160833 TRIOBP Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 28, Autosomal recessive nonsyndromic hearing loss 28
RS747160949 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS747161108 ADAMTSL4 Health Risk Pathogenic —
RS747161372 ASRGL1 Health Risk Conflicting classifications of pathogenicity —
RS747161431 LTBP2 Health Risk Pathogenic —
RS747161494 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS747161831 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS747162821 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS747162992 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS747164054 TNFRSF1A Health Risk Conflicting classifications of pathogenicity TNF receptor-associated periodic fever syndrome (TRAPS), Autoinflammatory syndrome
RS747165215 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS747165335 WDR19 Health Risk Pathogenic Jeune thoracic dystrophy, Senior-Loken syndrome 8
RS747165711 SLC5A6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747165958 DZIP1L Health Risk Likely pathogenic Polycystic kidney disease 5, DZIP1L-related disorder
RS747166010 TTC19 Health Risk Pathogenic Mitochondrial complex III deficiency nuclear type 2, Inborn genetic diseases
RS747166529 TRIO Health Risk Pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
RS747167000 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, ALPL-related disorder
RS747167770 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, COL4A4-related disorder
RS747168398 SPTLC2 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS747169620 STAR Health Risk Pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Syndactyly-telecanthus-anogenital and renal malformations syndrome
RS747169857 UNC13D Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS747170980 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS747171013 CHST3 Health Risk Pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
RS74717111 OPA3 Health Risk Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 3, Optic atrophy 3
RS747171418 DCLRE1C Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis
RS747171653 CEP164 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 15, Nephronophthisis 15
RS747172511 GRIN2B Health Risk Likely pathogenic Intellectual disability, autosomal dominant 6
RS747172803 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS747175358 BSCL2 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Charcot-Marie-Tooth disease type 2
RS747175448 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS747176117 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Febrile seizures
RS747177622 AFG2B Health Risk Pathogenic Hearing loss, autosomal recessive 119
RS747178896 MAPT Health Risk Conflicting classifications of pathogenicity —
RS747179265 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, NEB-related disorder
RS747179298 TPP1 Health Risk Pathogenic —
RS747180228 UNC13D Health Risk Pathogenic/Likely pathogenic Autoinflammatory syndrome, Familial hemophagocytic lymphohistiocytosis 3
RS747180813 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS747181293 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS747181703 TMEM126B Health Risk Pathogenic/Likely pathogenic Mitochondrial complex I deficiency, nuclear type 29
RS747182299 DNMT3B Health Risk Conflicting classifications of pathogenicity Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency
RS747182653 MTHFR Health Risk Conflicting classifications of pathogenicity Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS747183300 C2CD3 Health Risk Pathogenic —
RS747183517 GNB1 Health Risk Likely pathogenic —
RS747184077 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, FANCA-related disorder
RS747184649 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS747185260 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS747187696 KCNQ1 Health Risk Conflicting classifications of pathogenicity Jervell and Lange-Nielsen syndrome 1, Atrial fibrillation
RS747189218 BACH2 Health Risk Conflicting classifications of pathogenicity —
RS747189975 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS747190078 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation
RS747190555 DNAH9 Health Risk Pathogenic Ciliary dyskinesia, primary
RS747192384 ACOX1 Health Risk Pathogenic/Likely pathogenic Acyl-CoA oxidase deficiency, Acyl-CoA oxidase deficiency
RS747192873 GUCY2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS747193364 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
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