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
RS201860457 RP1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Inborn genetic diseases
RS201860580 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, MYH7-related skeletal myopathy
RS201860673 SGCA Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS201860756 TRIM71 Health Risk Conflicting classifications of pathogenicity Non-obstructive azoospermia, Hydrocephalus
RS201860953 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS201861261 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS201861334 CLCN1 Health Risk Conflicting classifications of pathogenicity Batten-Turner congenital myopathy, Congenital myotonia
RS201861645 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS201861847 LARS1 Health Risk Pathogenic Infantile liver failure syndrome 1, Infantile liver failure syndrome 1
RS201861969 MAPT Health Risk Conflicting classifications of pathogenicity MAPT-related disorder, Semantic dementia
RS201862174 SLC5A1 Health Risk Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption, Congenital glucose-galactose malabsorption
RS201862538 IFT172 Health Risk Pathogenic/Likely pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS201862973 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS201863231 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS201863246 CRYBB3 Health Risk Conflicting classifications of pathogenicity Cataract 22 multiple types, Cataract 22 multiple types
RS201863499 RTN2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS201863550 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Usher syndrome type 2A
RS201863754 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS201864041 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS201864147 OAT Health Risk Conflicting classifications of pathogenicity Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS201864483 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Breast neoplasm
RS201864573 ARID1A Health Risk Conflicting classifications of pathogenicity ARID1A-related disorder, ARID1A-related disorder
RS201864889 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, FRAS1-related disorder
RS2018650698 CSNK2A1 Health Risk Likely pathogenic —
RS201865099 KIF11 Health Risk Conflicting classifications of pathogenicity Hereditary ataxia, Hereditary ataxia
RS201865243 COQ8A Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia due to ubiquinone deficiency, COQ8A-related disorder
RS201865375 ECHS1 Health Risk Pathogenic/Likely pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, ECHS1-related disorder
RS201865389 LDB3 Health Risk Conflicting classifications of pathogenicity —
RS201865736 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS201865747 PEPD Health Risk Conflicting classifications of pathogenicity Prolidase deficiency, Prolidase deficiency
RS201865787 RLBP1 Health Risk Conflicting classifications of pathogenicity Newfoundland cone-rod dystrophy, Retinitis pigmentosa
RS201866479 CDH2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201866523 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS201866563 CRELD1 Health Risk Conflicting classifications of pathogenicity Atrioventricular septal defect, susceptibility to
RS201866603 PDGFRB Health Risk Conflicting classifications of pathogenicity Infantile myofibromatosis, Acroosteolysis-keloid-like lesions-premature aging syndrome
RS201866631 USH1G Health Risk Pathogenic Deafness, Usher syndrome type 1G
RS201866933 RLBP1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Newfoundland cone-rod dystrophy
RS201866998 GRIN2B Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 27
RS201867031 TSC1 Health Risk Conflicting classifications of pathogenicity Isolated focal cortical dysplasia type II, Hereditary cancer-predisposing syndrome
RS201867582 NLRP3 Health Risk Conflicting classifications of pathogenicity Cryopyrin associated periodic syndrome, Keratitis fugax hereditaria
RS201867624 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS201867802 COG1 Health Risk Conflicting classifications of pathogenicity COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation
RS201867859 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS201867922 GRIP1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 3, GRIP1-related disorder
RS201867948 ALDOB Health Risk Conflicting classifications of pathogenicity Hereditary fructosuria, Hereditary fructosuria
RS201868115 LIPH Health Risk Pathogenic/Likely pathogenic Woolly hair, autosomal recessive 2
RS201868142 TRAPPC11 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS201868387 TGM1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS201868415 SETD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Inborn genetic diseases
RS201868713 VDR Health Risk Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia, Vitamin D-dependent rickets type II with alopecia
RS201868751 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS201869295 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS201869352 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201869624 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS201869739 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS201869798 SDHD Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cowden syndrome 3
RS201869920 SDCCAG8 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS201870277 PROM1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal macular dystrophy type 2
RS201870299 KAT6A Health Risk Pathogenic —
RS201870309 ALOXE3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 3, Autosomal recessive congenital ichthyosis 3
RS201870319 PDE6B Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
RS201870761 DCX Health Risk Pathogenic Ectopic tissue, Ectopic tissue
RS201870762 SCN1A Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS201870876 F8 Health Risk Conflicting classifications of pathogenicity Hereditary factor VIII deficiency disease, Inborn genetic diseases
RS201871050 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS201871081 NLRP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201871288 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group I
RS201871435 NLRP1 Health Risk Conflicting classifications of pathogenicity —
RS201871482 FLNB Health Risk Conflicting classifications of pathogenicity —
RS201871537 DST Health Risk Pathogenic/Likely pathogenic Hereditary sensory and autonomic neuropathy type 6, Hereditary sensory and autonomic neuropathy type 6
RS201871637 AHCY Health Risk Conflicting classifications of pathogenicity Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Inborn genetic diseases
RS201872272 ACVR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201872390 GLUD1 Health Risk Conflicting classifications of pathogenicity Hyperinsulinism-hyperammonemia syndrome, Hyperinsulinism-hyperammonemia syndrome
RS201872466 C3 Health Risk Conflicting classifications of pathogenicity —
RS201872469 LTBP2 Health Risk Likely pathogenic —
RS201872484 MCCC2 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS201872558 ENO3 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to muscle beta-enolase deficiency, Glycogen storage disease due to muscle beta-enolase deficiency
RS201873107 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS201873197 LMNB2 Health Risk Conflicting classifications of pathogenicity Lipodystrophy, partial
RS201873521 SCNN1A Health Risk Conflicting classifications of pathogenicity Liddle syndrome 3, Pseudohypoaldosteronism
RS201874067 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS201874248 CREBBP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Rubinstein-Taybi syndrome
RS201874365 VWF Health Risk Conflicting classifications of pathogenicity —
RS201874487 MICAL1 Health Risk Conflicting classifications of pathogenicity —
RS201874528 NFKB1 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS201874707 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS201874722 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS201874835 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS201874841 ABCC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS201874889 BLNK Health Risk Conflicting classifications of pathogenicity Agammaglobulinemia 4, autosomal recessive
RS201874958 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS201875142 AIPL1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 4, Inborn genetic diseases
RS201875250 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS201875398 POLR3A Health Risk Conflicting classifications of pathogenicity Leukodystrophy, hypomyelinating
RS201875421 SCN9A Health Risk Conflicting classifications of pathogenicity Primary erythromelalgia, Paroxysmal extreme pain disorder
RS201875602 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS201875630 EPS8 Health Risk Conflicting classifications of pathogenicity EPS8-related disorder, EPS8-related disorder
RS201875716 ALAS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ALAS2-related disorder
RS201875907 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Inborn genetic diseases
RS201876002 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
« Prev 1 ... 1498 1499 1500 1501 1502 1503 1504 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →