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
RS764909409 GALE Health Risk Conflicting classifications of pathogenicity UDPglucose-4-epimerase deficiency, Inborn genetic diseases
RS764910205 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS764911027 TBX1 Health Risk Conflicting classifications of pathogenicity DiGeorge syndrome, TBX1-related disorder
RS764911657 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS764912104 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS764913664 TRPV3 Health Risk Conflicting classifications of pathogenicity Isolated focal non-epidermolytic palmoplantar keratoderma, Inborn genetic diseases
RS764914308 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, AGL-related disorder
RS764914973 EMC1 Health Risk Conflicting classifications of pathogenicity —
RS764915160 MYO7A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764915190 BLK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 11, Maturity-onset diabetes of the young type 11
RS764916645 KDM5B Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS764917109 RFX7 Health Risk Pathogenic —
RS764917754 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS764918448 CNGA3 Health Risk Pathogenic Achromatopsia 2, Retinal dystrophy
RS764919087 MTHFD1 Health Risk Pathogenic —
RS764919230 GP9 Health Risk Conflicting classifications of pathogenicity Bernard Soulier syndrome, Bernard Soulier syndrome
RS764919521 KCNU1 Health Risk Pathogenic Spermatogenic failure 79, Spermatogenic failure 79
RS764919689 IDUA Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS764920626 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS764920787 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS764921648 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS764921920 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS764921928 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764922350 SLC27A4 Health Risk Pathogenic Ichthyosis prematurity syndrome, Ichthyosis prematurity syndrome
RS76492282 PAX2 Health Risk Pathogenic Renal coloboma syndrome, Focal segmental glomerulosclerosis 7
RS764924345 PEX7 Health Risk Pathogenic/Likely pathogenic Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
RS764924872 SHANK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764925097 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS764925296 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS764925318 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Arrhythmogenic right ventricular cardiomyopathy
RS764925691 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS764925739 ALS2 Health Risk Conflicting classifications of pathogenicity Infantile-onset ascending hereditary spastic paralysis, Hereditary spastic paraplegia
RS764926983 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS764927038 HPS1 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 1
RS764928653 SURF1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4K, See cases
RS764929170 SCP2 Health Risk Conflicting classifications of pathogenicity —
RS764929476 EP300 Health Risk Conflicting classifications of pathogenicity EP300-related disorder, Inborn genetic diseases
RS764929940 ASB10 Health Risk Conflicting classifications of pathogenicity —
RS764930914 LMBRD1 Health Risk Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS764931229 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS764931697 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS764931883 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS764932308 WFS1 Health Risk Conflicting classifications of pathogenicity WFS1-Related Spectrum Disorders, Autosomal dominant nonsyndromic hearing loss 6
RS764935260 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS764935565 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS764935691 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS764936506 UNC119 Health Risk Pathogenic/Likely pathogenic Macular dystrophy, Cone-rod dystrophy 24
RS764936574 ELP1 Health Risk Pathogenic —
RS764936586 CLCN1 Health Risk Pathogenic —
RS764937305 TBXA2R Health Risk Conflicting classifications of pathogenicity Bleeding disorder, platelet-type
RS764938319 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, Hirschsprung disease
RS764939265 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS764940495 PNPO Health Risk Conflicting classifications of pathogenicity Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures
RS764940559 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS764941172 LAMA5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764941200 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS764941621 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2
RS764942 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome 1
RS764942073 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS764942250 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, ACADM-related disorder
RS764942670 IGFBP7 Health Risk Pathogenic Familial retinal arterial macroaneurysm, Familial retinal arterial macroaneurysm
RS764944681 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, CREBBP-related disorder
RS764945940 CRYGD Health Risk Pathogenic/Likely pathogenic Aculeiform cataract, Aculeiform cataract
RS764946227 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS764946729 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS764948348 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder
RS764948774 MBD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764948792 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS764949139 CDH23 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS764949536 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Brachyrachia (short spine dysplasia)
RS764949820 CYP19A1 Health Risk Likely pathogenic —
RS764949869 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS764950519 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS764950557 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS764950910 MYH7B Health Risk Pathogenic Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1
RS764951157 TAT Health Risk Conflicting classifications of pathogenicity Tyrosinemia type II, Tyrosinemia type II
RS764951306 BIN1 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS764951792 DSP Health Risk Conflicting classifications of pathogenicity Lethal acantholytic epidermolysis bullosa, Woolly hair-skin fragility syndrome
RS764952788 CYLD Health Risk Pathogenic Familial cylindromatosis, Familial cylindromatosis
RS764953041 AMPD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Pontocerebellar hypoplasia type 9
RS764954235 GUCY2D Health Risk Likely pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 1
RS764954300 SKIC2 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS764955583 CAP2 Health Risk Pathogenic Cardiomyopathy, dilated
RS764955786 CARD11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Severe combined immunodeficiency due to CARD11 deficiency
RS764956567 ATP8A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ATP8A2-related disorder
RS764957750 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS764957919 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS764957976 PLA2G6 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration
RS764958537 ABCC2 Health Risk Pathogenic —
RS764959117 FGFR2 Health Risk Conflicting classifications of pathogenicity Craniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome
RS764959222 KAT6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Genitopatellar syndrome
RS764959343 TOP3A Health Risk Likely pathogenic —
RS764959366 POP1 Health Risk Pathogenic —
RS764959531 TFG Health Risk Likely pathogenic —
RS764959600 PLA2G6 Health Risk Pathogenic Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS764959766 CACNA1G Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS764960076 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Congenital myasthenic syndrome 4A
RS764960797 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS764963626 CEP290 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Nephronophthisis
RS764963809 TRIO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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