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
RS1749909196 MSH3 Health Risk Likely pathogenic —
RS1749930301 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1749930972 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1749932051 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS1749943369 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1749947130 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1749983541 TRIO Health Risk Pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
RS1750049152 NIPBL Health Risk Likely pathogenic Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS1750066791 NR3C2 Health Risk Pathogenic —
RS1750077980 RAD50 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS1750079483 RAD50 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS1750086002 TERT Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 2
RS1750090102 TERT Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 2
RS1750101998 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1750104210 ALDH7A1 Health Risk Pathogenic/Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1750106866 TERT Health Risk Likely pathogenic Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS1750171365 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1750178563 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1750245794 LRBA Health Risk Likely pathogenic Severe combined immunodeficiency due to CORO1A deficiency, Combined immunodeficiency due to LRBA deficiency
RS1750289332 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS1750309299 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1750312383 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1750322897 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1750339039 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1750373491 NLGN1 Health Risk risk factor Autism, susceptibility to
RS1750384287 RAD50 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1750388096 ALDH7A1 Health Risk Likely pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS1750415294 NDUFAF2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 10
RS1750416123 RAB33B Health Risk Pathogenic Smith-McCort dysplasia 2, See cases
RS1750462712 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1750477011 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1750497172 LMNB1 Health Risk Pathogenic Syndrome with microcephaly as major feature, Microcephaly 26
RS1750506249 LMNB1 Health Risk Likely pathogenic Microcephaly 26, primary
RS1750584693 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS1750595782 APC Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS1750624491 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1750640480 RAD50 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS1750642516 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1750645114 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1750646869 RAD50 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS1750667332 FBN2 Health Risk Likely pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS1750667505 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1750667558 RAD50 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1750668598 FBN2 Health Risk Pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS1750671525 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1750680564 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS1750692557 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1750696028 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1750698269 RAD50 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1750701604 LRBA Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1750705894 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1750710114 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1750723817 LRBA Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1750760771 LRBA Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1750761217 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1750765838 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1750778435 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1750779319 RAD50 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS1750784096 HSPA9 Health Risk Pathogenic —
RS1750790929 FBN2 Health Risk Likely pathogenic Macular degeneration, early-onset
RS1750792792 FBN2 Health Risk Pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS1750792951 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS1750811749 FBN2 Health Risk Pathogenic/Likely pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS1750812513 FBN2 Health Risk Pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS1750830797 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS1750891403 FBN2 Health Risk Likely pathogenic Macular degeneration, early-onset
RS1750894751 FBN2 Health Risk Pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS1750917259 FBN2 Health Risk Pathogenic/Likely pathogenic Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS1750918319 FBN2 Health Risk Pathogenic/Likely pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS1750918931 FBN2 Health Risk Pathogenic/Likely pathogenic Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS1750920933 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1750926104 RAD50 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1750932790 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1750954067 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1750958514 HSD17B4 Health Risk Pathogenic Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS1750958862 TBCK Health Risk Pathogenic Hypotonia, infantile
RS1750962854 TBCK Health Risk Pathogenic Hypotonia, infantile
RS1750971659 TBCK Health Risk Pathogenic Inborn genetic diseases, Hypotonia
RS1750979319 WDFY3 Health Risk Pathogenic Microcephaly 18, primary
RS1750999210 ALDH7A1 Health Risk Pathogenic —
RS1751004098 ALDH7A1 Health Risk Likely pathogenic —
RS17510270 FGF13 Health Risk Conflicting classifications of pathogenicity FGF13-related disorder, Inborn genetic diseases
RS1751037826 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1751042239 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1751043025 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1751045993 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1751075634 NLGN1 Health Risk risk factor Autism, susceptibility to
RS1751108994 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS1751115198 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS1751122711 TERT Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 2
RS1751123722 NLGN1 Health Risk risk factor Autism, susceptibility to
RS1751126189 TERT Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS1751141961 PDE4D Health Risk Likely pathogenic —
RS1751144333 PDE4D Health Risk Likely pathogenic Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance
RS1751149025 FBN2;LOC126807501 Health Risk Likely pathogenic —
RS1751155195 TERT Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 2
RS1751159700 TERT Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 2
RS1751169439 RAD50 Health Risk Pathogenic Breast and/or ovarian cancer, Hereditary cancer-predisposing syndrome
RS1751169470 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1751171253 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
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