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
RS371383730 SLC19A2 Health Risk Pathogenic Megaloblastic anemia, thiamine-responsive
RS371383786 EHHADH Health Risk Conflicting classifications of pathogenicity EHHADH-related disorder, EHHADH-related disorder
RS371384048 PRPF6 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS371384177 HSPG2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS371385084 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS371385411 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS371385940 PINK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal recessive early-onset Parkinson disease 6
RS371385969 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, FG syndrome
RS371386732 MACF1 Health Risk Conflicting classifications of pathogenicity Lissencephaly 9 with complex brainstem malformation, Inborn genetic diseases
RS371387815 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS371388649 FAT2 Health Risk Conflicting classifications of pathogenicity Spastic ataxia, Spastic ataxia
RS371388948 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS371389581 NOD2 Health Risk Conflicting classifications of pathogenicity Regional enteritis, Blau syndrome
RS371391349 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS371394487 ABCB4 Health Risk Conflicting classifications of pathogenicity Cholestasis, intrahepatic
RS371394864 TRPM1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1C, TRPM1-related disorder
RS371395364 SIN3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS371396651 TTC21B Health Risk Likely pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS371396751 MADD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Deeah syndrome
RS371396764 ERCC3 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum group B, Xeroderma pigmentosum
RS371397270 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS371397760 GLB1 Health Risk Conflicting classifications of pathogenicity Infantile GM1 gangliosidosis, GM1 gangliosidosis type 2
RS371398512 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1B, MYO7A-related disorder
RS371398538 SELENON Health Risk Conflicting classifications of pathogenicity Eichsfeld type congenital muscular dystrophy, SEPN1-related disorder
RS371399245 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS371399251 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS371400214 PACS1 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Schuurs-Hoeijmakers syndrome
RS371401039 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS371401173 CPA1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS371401752 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS371403343 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS371405135 NEMF Health Risk Pathogenic Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, Intellectual developmental disorder with speech delay and axonal peripheral neuropathy
RS371405579 MYL2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, Cardiomyopathy
RS371406398 HERC2 Health Risk Pathogenic/Likely pathogenic —
RS371407400 GNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-D
RS371407903 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS371408734 SOS1 Health Risk Conflicting classifications of pathogenicity Fibromatosis, gingival
RS371409009 MAP1B Health Risk Pathogenic Periventricular nodular heterotopia 9, Periventricular nodular heterotopia 9
RS371409487 ELANE Health Risk Conflicting classifications of pathogenicity Cyclical neutropenia, Neutropenia
RS371409680 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1
RS371410129 IRF8 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 32B, Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
RS371410741 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS371410845 ACTA1 Health Risk Conflicting classifications of pathogenicity Progressive scapulohumeroperoneal distal myopathy, Actin accumulation myopathy
RS371411184 LAMC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS371411952 HCFC1 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblX
RS371412466 DNM2 Health Risk Conflicting classifications of pathogenicity Centronuclear myopathy, Charcot-Marie-Tooth disease dominant intermediate B
RS371412500 OCA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, 6 conditions
RS371412889 CYP21A2 Health Risk Conflicting classifications of pathogenicity ADRENAL HYPERPLASIA, CONGENITAL
RS371412957 TRIOBP Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 28, Autosomal recessive nonsyndromic hearing loss 28
RS371413388 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS371413721 PEX1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Zellweger spectrum disorders
RS371413736 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation 1, Capillary malformation-arteriovenous malformation syndrome
RS371414060 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS371414224 TECTA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS371414501 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS371414744 SLC39A13 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, spondylocheirodysplastic type
RS371414972 FOXN1 Health Risk Conflicting classifications of pathogenicity T-cell immunodeficiency, congenital alopecia
RS371415976 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome
RS371417084 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS371417658 ACAD9 Health Risk Conflicting classifications of pathogenicity Acyl-CoA dehydrogenase 9 deficiency, Inborn genetic diseases
RS371417841 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS371418239 ABHD12 Health Risk Conflicting classifications of pathogenicity PHARC syndrome, ABHD12-related disorder
RS371418883 BMP15 Health Risk Pathogenic Ovarian dysgenesis 2, Ovarian dysgenesis 2
RS371418985 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS371419134 LPIN1 Health Risk Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent
RS371421189 FHL2 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, FHL2-related disorder
RS371421345 KRT4 Health Risk Conflicting classifications of pathogenicity White sponge nevus 1, Inborn genetic diseases
RS371421459 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS371422299 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS371422466 CDH23 Health Risk Conflicting classifications of pathogenicity —
RS371424482 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS371424684 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS371424751 GRHL2 Health Risk Conflicting classifications of pathogenicity —
RS371425947 COL6A1 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS371426048 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS371426372 NDUFV1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS371427844 IVD Health Risk Pathogenic/Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS371428241 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 36
RS371429653 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS371430031 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS371431265 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Hereditary cancer-predisposing syndrome
RS371431444 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder
RS371431745 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS371431746 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS371432148 NPHP4 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 4, Nephronophthisis 4
RS371432203 ROGDI Health Risk Conflicting classifications of pathogenicity Amelocerebrohypohidrotic syndrome, Amelocerebrohypohidrotic syndrome
RS371432372 PIEZO2 Health Risk Conflicting classifications of pathogenicity Arthrogryposis, distal
RS371432629 CFI Health Risk Conflicting classifications of pathogenicity Macular degeneration, age-related
RS371432868 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS371433215 FGFR3 Health Risk Conflicting classifications of pathogenicity Camptodactyly-tall stature-scoliosis-hearing loss syndrome, Camptodactyly-tall stature-scoliosis-hearing loss syndrome
RS371434667 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS371436525 TULP1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 15, Retinitis pigmentosa
RS371437227 AGK Health Risk Conflicting classifications of pathogenicity Cataract 38, Sengers syndrome
RS371437266 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS371437381 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS371437581 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS371438221 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS371438311 PAX6 Health Risk Conflicting classifications of pathogenicity Anophthalmia-microphthalmia syndrome, carboxymethyl-dextran-A2-gadolinium-DOTA
RS371438607 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS371439173 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, FBN2-related disorder
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