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
RS2549106628 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549106648 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549106657 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549106663 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549106667 ZEB2 Health Risk Likely pathogenic ZEB2-related disorder, ZEB2-related disorder
RS2549106788 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549106815 ZEB2 Health Risk Conflicting classifications of pathogenicity ZEB2-related disorder, Mowat-Wilson syndrome
RS2549106853 ZEB2 Health Risk Pathogenic —
RS2549106878 ZEB2 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2549106896 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549106910 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549106917 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549107031 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549107043 ZEB2 Health Risk Likely pathogenic ZEB2-related disorder, ZEB2-related disorder
RS2549107051 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549107171 ZEB2 Health Risk Likely pathogenic See cases, See cases
RS2549107180 ZEB2 Health Risk Likely pathogenic —
RS2549107192 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549107201 ZEB2 Health Risk Likely pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549107217 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549107218 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549107839 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549107849 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549107852 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549107863 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549107870 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549107895 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549109346 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549109389 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549109403 ZEB2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2549109417 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549109930 ZEB2 Health Risk Likely pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549109951 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549110000 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549110013 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549110052 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549111395 ABAT Health Risk Likely pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS2549115450 ABAT Health Risk Pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS2549116195 ZBTB20 Health Risk Likely pathogenic —
RS2549116288 CERS3 Health Risk Pathogenic —
RS2549118540 ZEB2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2549118574 ZEB2 Health Risk Pathogenic —
RS2549118592 ZEB2 Health Risk Likely pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549119118 SOX5 Health Risk Likely pathogenic Lamb-Shaffer syndrome, Lamb-Shaffer syndrome
RS2549119185 ZBTB20 Health Risk Likely pathogenic Primrose syndrome, Primrose syndrome
RS2549119804 CERS3 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 9, Autosomal recessive congenital ichthyosis 9
RS2549120592 ZEB2 Health Risk Likely pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549120628 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549120673 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549120691 ZEB2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2549120733 ZEB2 Health Risk Pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549124957 ABAT Health Risk Likely pathogenic Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS2549127399 YY1 Health Risk Pathogenic Gabriele de Vries syndrome, Gabriele de Vries syndrome
RS2549138607 YY1 Health Risk Conflicting classifications of pathogenicity Gabriele de Vries syndrome, Gabriele de Vries syndrome
RS2549138613 YY1 Health Risk Likely pathogenic Gabriele de Vries syndrome, Gabriele de Vries syndrome
RS2549138620 YY1 Health Risk Likely pathogenic Gabriele de Vries syndrome, Gabriele de Vries syndrome
RS2549138621 YY1 Health Risk Likely pathogenic Gabriele de Vries syndrome, Gabriele de Vries syndrome
RS2549139328 YY1 Health Risk Likely pathogenic Gabriele de Vries syndrome, Gabriele de Vries syndrome
RS2549139334 YY1 Health Risk Likely pathogenic Gabriele de Vries syndrome, Gabriele de Vries syndrome
RS2549139353 YY1 Health Risk Pathogenic Gabriele de Vries syndrome, Gabriele de Vries syndrome
RS2549139361 YY1 Health Risk Likely pathogenic —
RS2549139366 YY1 Health Risk Likely pathogenic Gabriele de Vries syndrome, Gabriele de Vries syndrome
RS2549141619 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS2549141627 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS2549141629 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS2549143262 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS2549144454 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS2549144460 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS2549144469 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS2549144474 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS2549144489 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS2549144492 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS2549144508 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS2549145197 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS2549145213 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS2549145236 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS2549145255 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS2549146955 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS2549146973 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS2549147293 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS2549147296 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS2549147934 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS2549147974 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS2549148011 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS2549157200 ZEB2 Health Risk Likely pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS2549160371 KAT6B Health Risk Likely pathogenic See cases, See cases
RS2549161484 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS2549161486 PMM2 Health Risk Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS2549161988 KAT6B Health Risk Pathogenic —
RS2549168678 KAT6B Health Risk Pathogenic Genitopatellar syndrome, Genitopatellar syndrome
RS2549169285 KAT6B Health Risk Pathogenic Genitopatellar syndrome, Genitopatellar syndrome
RS2549169772 KAT6B Health Risk Pathogenic Blepharophimosis - intellectual disability syndrome, SBBYS type
RS2549170103 KAT6B Health Risk Likely pathogenic Blepharophimosis - intellectual disability syndrome, SBBYS type
RS2549171488 KAT6B Health Risk Pathogenic Neurodevelopmental disorder, Blepharophimosis - intellectual disability syndrome
RS2549171635 KAT6B Health Risk Pathogenic —
RS2549178064 SMARCC1 Health Risk risk factor Hydrocephalus, congenital
RS2549178858 SMARCC1 Health Risk risk factor Hydrocephalus, congenital
RS2549182848 KAT6B Health Risk Pathogenic Genitopatellar syndrome, Genitopatellar syndrome
RS2549182872 KAT6B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2549182881 KAT6B Health Risk Likely pathogenic Genitopatellar syndrome, KAT6B-related disorder
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