SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS886038125 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038130 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038131 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS886038133 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038134 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038135 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038136 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038137 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038138 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038139 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038140 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038141 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038143 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038144 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038145 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038146 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038149 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038150 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038151 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038153 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038154 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038155 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038156 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038158 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038159 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038160 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038162 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038163 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038164 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038165 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038166 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038169 BRCA2 Health Risk Pathogenic Fanconi anemia complementation group D1, Breast-ovarian cancer
RS886038170 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS886038171 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038172 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038173 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038175 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038176 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038177 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038178 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038179 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038180 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038182 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038183 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038184 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038186 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038187 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038188 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038189 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038191 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038192 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038194 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS886038196 BRCA1 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS886038197 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS886038200 KIAA0753 Health Risk Pathogenic Orofaciodigital syndrome XV, Joubert syndrome 38
RS886038201 KIAA0753 Health Risk Conflicting classifications of pathogenicity Orofaciodigital syndrome XV, Joubert syndrome 38
RS886038202 IRF6 Health Risk Pathogenic Popliteal pterygium syndrome, Popliteal pterygium syndrome
RS886038203 MKS1 Health Risk Likely pathogenic Joubert syndrome 28, Bardet-Biedl syndrome 13
RS886038204 MKS1 Health Risk Pathogenic Joubert syndrome 28, Joubert syndrome 28
RS886038205 B9D1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 27, Joubert syndrome
RS886038206 B9D1 Health Risk Pathogenic Joubert syndrome 27, Joubert syndrome 27
RS886038207 CYP21A2;LOC106780800 Health Risk Likely pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS886038208 FRMPD4 Health Risk Pathogenic Intellectual disability, X-linked 104
RS886038209 FRMPD4 Health Risk Likely pathogenic Intellectual disability, X-linked 104
RS886038210 USP27X Health Risk Pathogenic Intellectual disability, X-linked 105
RS886038211 USP27X Health Risk Pathogenic Intellectual disability, X-linked 105
RS886038212 KRT12 Health Risk Pathogenic Corneal dystrophy, Meesmann
RS886038213 LRRK1 Health Risk Pathogenic Osteosclerotic metaphyseal dysplasia, Osteosclerotic metaphyseal dysplasia
RS886038228 COL3A1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Familial thoracic aortic aneurysm and aortic dissection
RS886038237 COL5A1 Health Risk Conflicting classifications of pathogenicity —
RS886038240 SLC26A2 Health Risk Conflicting classifications of pathogenicity Multiple epiphyseal dysplasia type 4, Achondrogenesis
RS886038245 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS886038248 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS886038260 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS886038261 GALC Health Risk Conflicting classifications of pathogenicity Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS886038280 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS886038285 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS886038286 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS886038287 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS886038292 LAMA2 Health Risk Conflicting classifications of pathogenicity —
RS886038293 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS886038331 RYR1 Health Risk Conflicting classifications of pathogenicity Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia
RS886038350 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS886038353 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS886038358 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis 2
RS886038369 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS886038405 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Myofibrillar myopathy 4
RS886038419 BFSP1 Health Risk Conflicting classifications of pathogenicity Cataract 33, Cataract 33
RS886038429 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS886038433 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS886038434 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS886038435 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS886038438 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS886038439 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS886038440 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS886038447 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS886038449 NEB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS886038452 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS886038468 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS886038470 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
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