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
RS2517858504 CRYBB2 Health Risk Pathogenic Cataract 3 multiple types, Cataract 3 multiple types
RS2517858941 TBX1 Health Risk Pathogenic Velocardiofacial syndrome, Velocardiofacial syndrome
RS2517861604 MYO18B Health Risk Pathogenic —
RS2517861689 HMOX1 Health Risk Pathogenic —
RS2517861714 HMOX1 Health Risk Likely pathogenic —
RS2517863960 HMOX1 Health Risk Pathogenic —
RS2517864107 HMOX1 Health Risk Pathogenic —
RS2517864138 HMOX1 Health Risk Pathogenic Heme oxygenase 1 deficiency, Heme oxygenase 1 deficiency
RS2517864367 HMOX1 Health Risk Pathogenic —
RS2517864569 HMOX1 Health Risk Pathogenic —
RS2517875560 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS2517875605 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS2517875611 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS2517875658 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS2517875693 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS2517875737 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS2517876286 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS2517876295 AIRE Health Risk Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
RS2517876891 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS2517877620 PCNT Health Risk Pathogenic —
RS2517877698 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS2517877732 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS2517877811 PCNT Health Risk Pathogenic —
RS2517880405 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS2517880431 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS2517880510 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS2517880519 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS2517880872 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS2517880884 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS2517882117 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS2517882229 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS2517883456 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS2517883537 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS2517884392 CHEK2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2517884532 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS2517884545 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS2517884793 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2517884813 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS2517884896 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS2517884900 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS2517885237 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517885277 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517885454 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517885557 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517885584 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2517885679 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517885759 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS2517885984 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS2517885999 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS2517886828 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2517886998 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS2517887293 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2517887531 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517887588 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517887811 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2517894740 TCN2 Health Risk Conflicting classifications of pathogenicity Transcobalamin II deficiency, Inborn genetic diseases
RS2517900064 TCN2 Health Risk Pathogenic Transcobalamin II deficiency, Transcobalamin II deficiency
RS2517900101 TCN2 Health Risk Pathogenic Transcobalamin II deficiency, Transcobalamin II deficiency
RS2517903551 TCN2 Health Risk Pathogenic/Likely pathogenic TCN2-related disorder, Transcobalamin II deficiency
RS2517903686 TCN2 Health Risk Pathogenic Transcobalamin II deficiency, Transcobalamin II deficiency
RS2517903801 TCN2 Health Risk Pathogenic Transcobalamin II deficiency, Transcobalamin II deficiency
RS2517904146 MYO18B Health Risk Pathogenic —
RS2517906263 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2517906503 TCN2 Health Risk Pathogenic Transcobalamin II deficiency, Transcobalamin II deficiency
RS2517906638 TCN2 Health Risk Pathogenic Transcobalamin II deficiency, Transcobalamin II deficiency
RS2517908566 TCN2 Health Risk Pathogenic Transcobalamin II deficiency, Transcobalamin II deficiency
RS2517908612 TCN2 Health Risk Pathogenic Transcobalamin II deficiency, Transcobalamin II deficiency
RS2517908693 TCN2 Health Risk Pathogenic Transcobalamin II deficiency, Transcobalamin II deficiency
RS2517910411 PLA2G6 Health Risk Pathogenic Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS2517912354 TCN2 Health Risk Likely pathogenic Transcobalamin II deficiency, Transcobalamin II deficiency
RS2517912426 TCN2 Health Risk Pathogenic Transcobalamin II deficiency, Transcobalamin II deficiency
RS2517918137 PLA2G6 Health Risk Likely pathogenic Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS2517920041 NCF4 Health Risk Pathogenic Granulomatous disease, chronic
RS2517927333 PLA2G6 Health Risk Pathogenic PLA2G6-associated neurodegeneration, PLA2G6-associated neurodegeneration
RS2517927461 PLA2G6 Health Risk Likely pathogenic —
RS2517929064 NCF4 Health Risk Pathogenic Granulomatous disease, chronic
RS2517929080 NCF4 Health Risk Pathogenic Granulomatous disease, chronic
RS2517929586 NCF4 Health Risk Pathogenic Granulomatous disease, chronic
RS2517930638 PLA2G6 Health Risk Pathogenic Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS2517930878 PLA2G6 Health Risk Pathogenic Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS2517941575 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2517942080 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2517942094 CHEK2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2517942643 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517942775 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2517943044 CHEK2 Health Risk Pathogenic Gastric cancer, Familial cancer of breast
RS2517943306 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517943417 MYH9 Health Risk Likely pathogenic MYH9-related disorder, MYH9-related disorder
RS2517943425 MYH9 Health Risk Likely pathogenic MYH9-related disorder, MYH9-related disorder
RS2517943525 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517943729 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517944364 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2517945218 DEPDC5 Health Risk Likely pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2517947003 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2517947215 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2517947258 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2517947534 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2517951495 PLA2G6 Health Risk Pathogenic Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS2517951676 PLA2G6 Health Risk Pathogenic —
RS2517951819 PLA2G6 Health Risk Likely pathogenic Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
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