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
RS1557178889 FLNA Health Risk Conflicting classifications of pathogenicity —
RS1557178932 FLNA Health Risk Conflicting classifications of pathogenicity Frontometaphyseal dysplasia, Oto-palato-digital syndrome
RS1557179208 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS1557179279 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS1557179325 FLNA Health Risk Pathogenic Heterotopia, periventricular
RS1557179349 FLNA Health Risk Pathogenic/Likely pathogenic Periventricular nodular heterotopia, Periventricular nodular heterotopia
RS1557179357 FLNA Health Risk Pathogenic Heterotopia, periventricular
RS1557179655 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS1557179659 FLNA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1557179684 FLNA Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1557180206 FLNA Health Risk Likely pathogenic —
RS1557180226 FLNA Health Risk Pathogenic Heterotopia, periventricular
RS1557180289 FLNA Health Risk Conflicting classifications of pathogenicity Heterotopia, periventricular
RS1557182198 EMD Health Risk Likely pathogenic —
RS1557182214 EMD Health Risk Likely pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS1557182286 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS1557182301 EMD Health Risk Pathogenic/Likely pathogenic X-linked Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy
RS1557182317 EMD Health Risk Pathogenic Myopathy, Flexion contracture
RS1557182364 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS1557182431 EMD Health Risk Pathogenic/Likely pathogenic Emery-Dreifuss muscular dystrophy 1, X-linked
RS1557182560 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, Thyroid cancer
RS1557182611 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS1557182654 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS1557182661 EMD Health Risk Pathogenic/Likely pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS1557182670 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS1557182676 EMD Health Risk Pathogenic/Likely pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS1557182692 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS1557182708 EMD Health Risk Likely pathogenic —
RS1557184925 RPL10 Health Risk Likely pathogenic —
RS1557189252 FGD1 Health Risk Likely pathogenic Inborn genetic diseases, Aarskog syndrome
RS1557189455 FGD1 Health Risk Conflicting classifications of pathogenicity Aarskog syndrome, Aarskog syndrome
RS1557189592 FGD1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1557189608 FGD1 Health Risk Likely pathogenic Aarskog syndrome, Aarskog syndrome
RS1557189664 FGD1 Health Risk Pathogenic/Likely pathogenic FGD1-related disorder, Aarskog syndrome
RS1557191074 TAFAZZIN Health Risk Pathogenic Cardiovascular phenotype, 3-Methylglutaconic aciduria type 2
RS1557191125 TAFAZZIN Health Risk Pathogenic —
RS1557191139 TAFAZZIN Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS1557191170 TAFAZZIN Health Risk Pathogenic/Likely pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS1557191567 FGD1 Health Risk Pathogenic/Likely pathogenic Aarskog syndrome, Aarskog syndrome
RS1557191602 FGD1 Health Risk Pathogenic Inborn genetic diseases, FGD1-related disorder
RS1557192084 CLCN5 Health Risk Pathogenic Dent disease type 1, Dent disease type 1
RS1557193815 TAFAZZIN Health Risk Pathogenic —
RS1557193821 TAFAZZIN Health Risk Pathogenic —
RS1557194018 CLCN5 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1557194077 TAFAZZIN Health Risk Pathogenic —
RS1557194090 CLCN5 Health Risk Likely pathogenic Hyperkalemia, Multiple small medullary renal cysts
RS1557194353 CLCN5 Health Risk Likely pathogenic Dent disease type 1, Hypophosphatemic rickets
RS1557194377 TAFAZZIN Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS1557194488 TAFAZZIN Health Risk Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS1557194525 TAFAZZIN Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS1557194719 CLCN5 Health Risk Likely pathogenic —
RS1557196978 ATP6AP1 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 47, Immunodeficiency 47
RS1557198307 GDI1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 41
RS1557198566 GDI1 Health Risk Likely pathogenic —
RS1557198821 GDI1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1557211209 LAGE3 Health Risk Pathogenic Galloway-Mowat syndrome 2, X-linked
RS1557211306 LAGE3 Health Risk Pathogenic Galloway-Mowat syndrome 2, X-linked
RS1557211410 LAGE3 Health Risk Pathogenic Galloway-Mowat syndrome 2, X-linked
RS1557211730 DMD Health Risk Conflicting classifications of pathogenicity Becker muscular dystrophy, atypical
RS1557213306 MAGT1 Health Risk Conflicting classifications of pathogenicity X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
RS1557217723 MAGT1 Health Risk Pathogenic X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
RS1557218076 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1557218093 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1557218131 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
RS1557218269 DMD Health Risk Pathogenic —
RS1557220472 COX7B Health Risk Likely pathogenic —
RS1557229502 G6PD Health Risk Pathogenic/Likely pathogenic Anemia, nonspherocytic hemolytic
RS1557229572 G6PD Health Risk Pathogenic/Likely pathogenic Anemia, nonspherocytic hemolytic
RS1557229599 G6PD Health Risk Pathogenic/Likely pathogenic Anemia, nonspherocytic hemolytic
RS1557229648 G6PD Health Risk Conflicting classifications of pathogenicity Anemia, nonspherocytic hemolytic
RS1557229670 G6PD Health Risk Pathogenic Anemia, nonspherocytic hemolytic
RS1557229683 G6PD Health Risk Pathogenic/Likely pathogenic Anemia, nonspherocytic hemolytic
RS1557229685 G6PD Health Risk Pathogenic Anemia, nonspherocytic hemolytic
RS1557229736 G6PD Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Anemia
RS1557229854 G6PD Health Risk Pathogenic/Likely pathogenic Anemia, nonspherocytic hemolytic
RS1557229916 G6PD Health Risk Pathogenic Anemia, nonspherocytic hemolytic
RS1557230040 G6PD Health Risk Pathogenic Anemia, nonspherocytic hemolytic
RS1557230213 G6PD Health Risk Pathogenic/Likely pathogenic Anemia, nonspherocytic hemolytic
RS1557230573 G6PD Health Risk Likely pathogenic Familial hemolytic anemia, Anemia
RS1557230626 G6PD Health Risk Pathogenic Anemia, nonspherocytic hemolytic
RS1557231562 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, Cutis laxa
RS1557231591 ATP7A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Menkes kinky-hair syndrome
RS1557231629 ATP7A Health Risk Conflicting classifications of pathogenicity Cutis laxa, X-linked
RS1557231840 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3
RS1557231845 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3
RS1557231866 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3
RS1557231872 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, Cutis laxa
RS1557232786 ATP7A Health Risk Conflicting classifications of pathogenicity Cutis laxa, X-linked
RS1557233589 G6PD Health Risk Likely pathogenic Anemia, nonspherocytic hemolytic
RS1557233915 G6PD Health Risk Pathogenic Anemia, nonspherocytic hemolytic
RS1557234412 ATP7A Health Risk Conflicting classifications of pathogenicity X-linked distal spinal muscular atrophy type 3, Menkes kinky-hair syndrome
RS1557234466 ATP7A Health Risk Conflicting classifications of pathogenicity Cutis laxa, X-linked
RS1557234510 ATP7A Health Risk Pathogenic Cutis laxa, X-linked
RS1557234537 ATP7A Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cutis laxa
RS1557234543 ATP7A Health Risk Conflicting classifications of pathogenicity X-linked distal spinal muscular atrophy type 3, Menkes kinky-hair syndrome
RS1557234931 ATP7A Health Risk Conflicting classifications of pathogenicity Cutis laxa, X-linked
RS1557234937 ATP7A Health Risk Conflicting classifications of pathogenicity X-linked distal spinal muscular atrophy type 3, Menkes kinky-hair syndrome
RS1557236015 IKBKG Health Risk Pathogenic —
RS1557236445 IKBKG Health Risk Pathogenic Incontinentia pigmenti syndrome, Incontinentia pigmenti syndrome
RS1557236517 IKBKG Health Risk Pathogenic —
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