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
RS1753477155 C9 Health Risk Pathogenic/Likely pathogenic Complement component 9 deficiency, Age related macular degeneration 15
RS1753477498 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS1753505068 PDE6A Health Risk Likely pathogenic —
RS1753554489 HSD17B4 Health Risk Pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS1753560558 HSD17B4 Health Risk Pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS1753640069 SPINK5 Health Risk Likely pathogenic Netherton syndrome, Netherton syndrome
RS1753660598 SH3TC2 Health Risk Conflicting classifications of pathogenicity Susceptibility to mononeuropathy of the median nerve, mild
RS1753690583 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype
RS1753698267 RASA1 Health Risk Pathogenic Capillary malformation-arteriovenous malformation syndrome, Capillary malformation-arteriovenous malformation syndrome
RS1753702797 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1753722683 AMACR Health Risk Conflicting classifications of pathogenicity Alpha-methylacyl-CoA racemase deficiency, Alpha-methylacyl-CoA racemase deficiency
RS1753758481 TRIO Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1753821661 GABRB2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 92, Developmental and epileptic encephalopathy 92
RS1753822503 GABRB2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Developmental and epileptic encephalopathy 92
RS1753822738 GABRB2 Health Risk Pathogenic Developmental and epileptic encephalopathy 92, Developmental and epileptic encephalopathy 92
RS1753824440 GABRB2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Developmental and epileptic encephalopathy 92
RS1753824585 GABRB2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy 92, Developmental and epileptic encephalopathy 92
RS1753844425 WDFY3 Health Risk Likely pathogenic Microcephaly 18, primary
RS1753848501 HMGCS1 Health Risk Pathogenic Rigid spine syndrome, Rigid spine syndrome
RS1753894328 GM2A Health Risk Likely pathogenic Tay-Sachs disease, variant AB
RS1753918029 GLRA1 Health Risk Pathogenic/Likely pathogenic Hereditary hyperekplexia, Hereditary hyperekplexia
RS1753991365 CTNNA1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1754021035 PDE6A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1754033945 SPINK5 Health Risk Likely pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS1754056948 TRIP13 Health Risk Pathogenic Oocyte maturation defect 9, Oocyte maturation defect 9
RS1754072533 C9 Health Risk Pathogenic —
RS17540728 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Charcot-Marie-Tooth disease axonal type 2O
RS1754073023 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1754081385 SH3TC2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4
RS1754083341 HSD17B4 Health Risk Pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS1754087713 HSD17B4 Health Risk Pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS1754094644 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4C
RS1754097044 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1754097992 GLRA1 Health Risk Likely pathogenic Hyperekplexia 1, Hyperekplexia 1
RS1754098584 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1754104323 SH3TC2 Health Risk Pathogenic —
RS1754121564 IL12B Health Risk Likely pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
RS1754135016 PDE6A Health Risk Likely pathogenic —
RS1754165557 HMGCS1 Health Risk Pathogenic Rigid spine syndrome, CONGENITAL MYOPATHY 28 WITH RIGID SPINE
RS1754192867 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1754197638 GABRA1 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Epilepsy
RS1754199170 GABRA1 Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Epilepsy
RS1754205019 NIPBL Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1754222214 SPINK5 Health Risk Pathogenic Netherton syndrome, Ichthyosis linearis circumflexa
RS1754226636 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1754234425 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1754239306 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1754239719 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1754250771 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1754319130 SH3TC2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4
RS1754320158 SH3TC2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C
RS1754350429 NIPAL4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6
RS1754355304 CTNNA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1754362343 SPINK5 Health Risk Likely pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS1754363697 CTNNA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS1754371447 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C
RS1754377539 CENPE Health Risk Likely pathogenic Microcephaly 13, primary
RS1754396332 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1754418004 PDE6A Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1754425628 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4C, Charcot-Marie-Tooth disease type 4C
RS1754425732 SH3TC2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C
RS1754427074 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS1754451124 SPINK5 Health Risk Pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS1754471135 NIPAL4 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 6, Autosomal recessive congenital ichthyosis 6
RS1754473792 ADGRV1 Health Risk Pathogenic —
RS1754531788 ADGRV1 Health Risk Pathogenic —
RS1754538399 LOX Health Risk Pathogenic/Likely pathogenic Aortic aneurysm, familial thoracic 10
RS1754540175 LOX Health Risk Likely pathogenic —
RS1754555183 ADGRV1 Health Risk Pathogenic —
RS1754556067 ADGRV1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1754559510 ADGRV1 Health Risk Pathogenic —
RS1754560628 ADGRV1 Health Risk Likely pathogenic Usher syndrome type 2C, Usher syndrome type 2C
RS1754569068 SPINK5 Health Risk Likely pathogenic Ichthyosis linearis circumflexa, Ichthyosis linearis circumflexa
RS1754591002 LOX Health Risk Pathogenic —
RS1754594011 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1754603855 NIPBL Health Risk Pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1754653752 LOX Health Risk Likely pathogenic —
RS1754655630 LOX Health Risk Pathogenic/Likely pathogenic Aortic aneurysm, familial thoracic 10
RS1754674801 ITK Health Risk Pathogenic Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1
RS1754689321 SPEF2 Health Risk Likely pathogenic SPEF2-related disorder, SPEF2-related disorder
RS1754786861 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1754800670 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1754805687 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1754957238 WDFY3 Health Risk Likely pathogenic Microcephaly 18, primary
RS17549671 F13B Health Risk Conflicting classifications of pathogenicity Factor XIII, b subunit
RS17549732 TACO1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS1755013971 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1755017552 SLC26A2 Health Risk Pathogenic Achondrogenesis, type IB
RS1755018682 SLC26A2 Health Risk Pathogenic Achondrogenesis, type IB
RS1755018723 SLC26A2 Health Risk Likely pathogenic Achondrogenesis, type IB
RS1755020578 SLC26A2 Health Risk Pathogenic/Likely pathogenic Achondrogenesis, type IB
RS1755026324 SLC26A2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Diastrophic dysplasia
RS1755026740 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS1755036404 HSD17B4 Health Risk Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome 1
RS1755061747 GABRA1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 19
RS1755063375 GABRA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS1755063970 GABRA1 Health Risk Pathogenic Idiopathic generalized epilepsy, Epilepsy
RS1755073343 SLC26A2 Health Risk Conflicting classifications of pathogenicity Sulfate transporter-related osteochondrodysplasia, Diastrophic dysplasia
RS1755074965 ITK Health Risk Pathogenic Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1
RS1755079640 SLC26A2 Health Risk Likely pathogenic Osteochondrodysplasia, Osteochondrodysplasia
« Prev 1 ... 1214 1215 1216 1217 1218 1219 1220 ... 4509 Next »

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

Get Started Free →