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
RS1835858946 DNM1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 31A
RS1835880166 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1835894708 INPP5E Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS183589498 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS1835896772 NPC1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS183589811 HLCS Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Inborn genetic diseases
RS1835941699 GPAA1 Health Risk Pathogenic Glycosylphosphatidylinositol biosynthesis defect 15, Glycosylphosphatidylinositol biosynthesis defect 15
RS183594888 HADH Health Risk Conflicting classifications of pathogenicity Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia
RS1835951888 GPAA1 Health Risk Pathogenic —
RS183596463 GORAB Health Risk Pathogenic Geroderma osteodysplastica, Geroderma osteodysplastica
RS1836077490 COL27A1 Health Risk Pathogenic —
RS183609678 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS183613970 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1836170608 GALNT12 Health Risk Conflicting classifications of pathogenicity —
RS183617764 MKS1 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS183620684 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS183621659 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder
RS183622528 DCLRE1C Health Risk Pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS183622722 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS183625325 NPAT Health Risk Conflicting classifications of pathogenicity —
RS183631592 PCDH15 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1836329410 SLC34A3 Health Risk Likely pathogenic —
RS183633457 ADGRV1 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS183634687 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS1836361994 TMEM38B Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS1836370529 LRSAM1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS1836372698 LRSAM1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease axonal type 2P
RS183638147 GFER Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1836406734 GALNT12 Health Risk Conflicting classifications of pathogenicity —
RS1836407117 GALNT12 Health Risk Conflicting classifications of pathogenicity —
RS1836430953 SURF1 Health Risk Pathogenic Leigh syndrome, Mitochondrial complex IV deficiency
RS183643245 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS1836451628 SLC34A3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS1836455411 SURF1 Health Risk Likely pathogenic See cases, See cases
RS1836457113 TG Health Risk Pathogenic —
RS1836461848 SURF1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS1836462685 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1836464000 WAC Health Risk Likely pathogenic DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
RS1836465016 SURF1 Health Risk Pathogenic/Likely pathogenic Leigh syndrome, Charcot-Marie-Tooth disease type 4K
RS183647059 SPTA1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, Pyropoikilocytosis
RS183648123 ABCC6 Health Risk Conflicting classifications of pathogenicity —
RS183651028 ARSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS1836518719 SURF1 Health Risk Pathogenic —
RS1836518975 SURF1 Health Risk Pathogenic —
RS1836519031 SURF1 Health Risk Pathogenic —
RS183652080 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, Ovarian serous cystadenocarcinoma
RS183655276 CEP290 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 10, Joubert syndrome 5
RS1836579405 SLC34A3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS1836579970 SURF1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS183658182 CTRC Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, CTRC-related disorder
RS183658380 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 3, Renal-hepatic-pancreatic dysplasia 1
RS1836590086 SURF1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS1836590782 SURF1 Health Risk Likely pathogenic Leigh syndrome, SURF1-related disorder
RS1836592105 SURF1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS1836637522 ADAM9 Health Risk Pathogenic Cone-rod dystrophy 9, Cone-rod dystrophy 9
RS183666083 TRAP1 Health Risk Conflicting classifications of pathogenicity —
RS183667452 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS183669161 LCA5 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS183674012 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS183677010 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS183678709 TET3 Health Risk Conflicting classifications of pathogenicity —
RS183682756 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS183683592 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS183685723 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS183687186 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS1836888405 ROR2 Health Risk Conflicting classifications of pathogenicity Short stature, Brachydactyly type B1
RS1836898982 RBP3 Health Risk Pathogenic —
RS1836911147 ROR2 Health Risk Conflicting classifications of pathogenicity Brachydactyly type B1, Distal symphalangism
RS183691340 ADAMTS10 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Weill-Marchesani syndrome
RS1836931186 RBP3 Health Risk Likely pathogenic Retinitis pigmentosa 66, Retinitis pigmentosa 66
RS1836974640 RBP3 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS183698543 POMGNT1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS1836992042 CSPP1 Health Risk Likely pathogenic Joubert syndrome 21, Joubert syndrome 21
RS183705877 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa
RS183706407 CHIT1 Health Risk Conflicting classifications of pathogenicity Chitotriosidase deficiency, Chitotriosidase deficiency
RS183714647 LEPR Health Risk Conflicting classifications of pathogenicity —
RS183714869 PRPH2 Health Risk Conflicting classifications of pathogenicity Patterned macular dystrophy 1, Cone-rod dystrophy
RS1837201696 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS1837228121 ROR2 Health Risk Pathogenic Autosomal recessive Robinow syndrome, Autosomal recessive Robinow syndrome
RS1837248544 ERCC6 Health Risk Pathogenic —
RS1837257225 ERCC6 Health Risk Pathogenic —
RS183725854 HMCN1 Health Risk Conflicting classifications of pathogenicity HMCN1-related disorder, Age related macular degeneration 1
RS1837258723 ERCC6 Health Risk Pathogenic —
RS183725992 LCT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1837271887 ERCC6 Health Risk Likely pathogenic —
RS183729115 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS183729151 FRAS1 Health Risk Conflicting classifications of pathogenicity FRAS1-related disorder, Fraser syndrome 1
RS183733802 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy 14
RS183739128 VCL Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1W
RS1837393519 ERCC6 Health Risk Pathogenic/Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS1837403402 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, classic type
RS1837406273 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1837435094 TRAPPC9 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1837444858 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS1837448977 ERCC6 Health Risk Likely pathogenic Cockayne syndrome type 2, Cockayne syndrome type 2
RS1837452924 ERCC6 Health Risk Conflicting classifications of pathogenicity Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
RS1837504550 ERCC6 Health Risk Pathogenic —
RS1837506844 ERCC6 Health Risk Pathogenic —
RS183758503 SPAG17 Health Risk Likely pathogenic Cranioectodermal dysplasia 2, Meniere disease
RS183760368 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome due to tenascin-X deficiency, Ehlers-Danlos syndrome
« Prev 1 ... 1274 1275 1276 1277 1278 1279 1280 ... 4509 Next »

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

Get Started Free →