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
RS2487775482 BRIP1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2487793416 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487794552 KMT2C Health Risk Likely pathogenic Kleefstra syndrome 2, Kleefstra syndrome 2
RS2487796038 KMT2C Health Risk Pathogenic Kleefstra syndrome 2, Kleefstra syndrome 2
RS2487804678 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487805950 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487807171 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487807451 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487807615 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487807706 CHD7 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2487807791 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487807806 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487807866 CHD7 Health Risk Likely pathogenic —
RS2487810076 IKBKB Health Risk Pathogenic Severe combined immunodeficiency due to IKK2 deficiency, Severe combined immunodeficiency due to IKK2 deficiency
RS2487811001 CHD7 Health Risk Likely pathogenic Inborn genetic diseases, CHD7-related disorder
RS2487812403 CHD7 Health Risk Likely pathogenic CHD7-related disorder, CHD7-related disorder
RS2487812576 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487818203 CHD7 Health Risk Pathogenic —
RS2487818782 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS2487818875 CHD7 Health Risk Pathogenic CHD7-related disorder, CHD7-related disorder
RS2487819165 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487819413 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487819498 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487819601 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487843822 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487844058 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS2487844132 CHD7 Health Risk Likely pathogenic CHD7-related disorder, CHD7-related disorder
RS2487852842 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS2487853842 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS2487854295 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS2487855072 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS2487860536 KMT2C Health Risk Pathogenic —
RS2487894291 KMT2C Health Risk Likely pathogenic KMT2C-related disorder, KMT2C-related disorder
RS2487894669 CHD7 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2487895075 CHD7 Health Risk Likely pathogenic CHD7-related disorder, CHD7-related disorder
RS2487895128 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS2487895449 CHD7 Health Risk Pathogenic Inborn genetic diseases, CHARGE syndrome
RS2487895579 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487896744 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS2487897230 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS2487902725 CHD7 Health Risk Likely pathogenic CHD7-related disorder, CHD7-related disorder
RS2487902736 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487904295 CHD7 Health Risk Pathogenic See cases, See cases
RS2487904316 CHD7 Health Risk Likely pathogenic —
RS2487910301 CHD7 Health Risk Pathogenic CHD7-related disorder, CHD7-related disorder
RS2487910319 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487910556 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487911373 CHD7 Health Risk Pathogenic —
RS2487913969 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS2487915295 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487916384 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487944225 CHD7 Health Risk Pathogenic —
RS2487944279 CHD7 Health Risk Likely pathogenic Inborn genetic diseases, CHARGE syndrome
RS2487945576 CHD7 Health Risk Pathogenic Inborn genetic diseases, CHARGE syndrome
RS2487946403 CHD7 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2487946980 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487947134 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487948501 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487948749 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487969441 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487970311 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS2487970421 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487971762 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHD7-related CHARGE syndrome
RS2487976303 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487976398 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487976511 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS2487998297 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2487998412 CHD7 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2487998678 CHD7 Health Risk Conflicting classifications of pathogenicity CHD7-related disorder, CHARGE syndrome
RS2487998998 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2488000947 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS2488004495 CHD7 Health Risk Pathogenic Hypogonadotropic hypogonadism 5 with or without anosmia, Hypogonadotropic hypogonadism 5 with or without anosmia
RS2488004616 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS2488015610 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS2488020334 POP1 Health Risk Pathogenic —
RS2488023566 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2488024120 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2488024296 CHD7 Health Risk Pathogenic CHD7-related disorder, CHD7-related disorder
RS2488029205 CHD7 Health Risk Pathogenic —
RS2488029385 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2488030349 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2488032118 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2488035178 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2488035229 CHD7 Health Risk Likely pathogenic —
RS2488035644 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS2488036100 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2488036644 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2488036663 CHD7 Health Risk Pathogenic Iris coloboma, Iris coloboma
RS2488037309 CHD7 Health Risk Likely pathogenic CHD7-related disorder, CHD7-related disorder
RS2488039848 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS2488040230 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS2488040645 CHD7 Health Risk Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS2488040788 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2488041508 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2488042614 CHD7 Health Risk Pathogenic/Likely pathogenic CHARGE syndrome, CHARGE syndrome
RS2488042663 CHD7 Health Risk Likely pathogenic CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS2488043393 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2488043491 CHD7 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2488044794 CHD7 Health Risk Pathogenic CHARGE syndrome, CHARGE syndrome
RS2488046459 CHD7 Health Risk Pathogenic CHD7-related disorder, CHD7-related disorder
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