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
RS1597081365 ADAMTS18 Health Risk Likely pathogenic —
RS1597081571 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1597082860 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1597082866 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1597082876 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
RS1597085400 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
RS1597085967 CYLD Health Risk Pathogenic Familial multiple trichoepitheliomata, Familial multiple trichoepitheliomata
RS1597088146 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1597088245 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1597088499 CYLD Health Risk Pathogenic Familial cylindromatosis, Brooke-Spiegler syndrome
RS1597088811 PALB2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1597089246 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1597089434 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1597089469 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1597089741 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1597089845 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1597089904 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1597090031 PALB2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1597090059 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1597090146 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1597090324 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1597090596 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1597090656 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1597090662 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1597090787 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
RS1597090894 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1597090903 PALB2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1597091217 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1597091230 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1597091247 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1597091425 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1597091470 CYLD Health Risk Pathogenic Familial cylindromatosis, Familial cylindromatosis
RS1597091518 PALB2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Malignant tumor of breast
RS1597095394 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1597095450 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1597095457 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1597095559 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1597095683 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1597095773 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1597096071 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1597096243 PALB2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1597096326 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1597096338 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1597096898 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1597096949 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1597097072 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1597097182 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1597097263 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1597097408 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1597097438 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1597097656 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1597097936 PALB2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1597098094 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1597098138 PALB2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1597098223 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1597098679 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1597098739 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1597098858 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1597098943 PALB2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1597098960 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1597098971 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1597098996 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1597099149 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1597099275 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1597099331 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1597099388 CREBBP Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations
RS1597099523 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1597099769 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1597099910 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1597099922 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1597100789 TK2 Health Risk Likely pathogenic —
RS1597101532 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1597101736 PALB2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1597101776 PALB2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, PALB2-related cancer predisposition
RS1597101822 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1597101885 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS1597176845 COX6A2 Health Risk Likely pathogenic Mitochondrial complex IV deficiency, nuclear type 18
RS1597207802 WWOX Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 28
RS1597207871 WWOX Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 1
RS1597210953 ZNF469 Health Risk Pathogenic Brittle cornea syndrome 1, Brittle cornea syndrome 1
RS1597213727 ZNF469 Health Risk Pathogenic —
RS1597216056 WWOX Health Risk Pathogenic Developmental and epileptic encephalopathy, 1
RS1597223214 PRPF8 Health Risk Likely pathogenic Retinitis pigmentosa 13, Retinitis pigmentosa 13
RS1597223220 PRPF8 Health Risk Likely pathogenic Retinitis pigmentosa 13, Retinal dystrophy
RS1597225261 COG8 Health Risk Likely pathogenic COG8-congenital disorder of glycosylation, COG8-congenital disorder of glycosylation
RS1597228188 SALL1 Health Risk Pathogenic Townes syndrome, Townes syndrome
RS1597228490 SALL1 Health Risk Likely pathogenic Townes-Brocks syndrome 1, Townes-Brocks syndrome 1
RS1597228550 SALL1 Health Risk Likely pathogenic —
RS1597228568 SALL1 Health Risk Pathogenic Townes-Brocks syndrome 1, Townes-Brocks syndrome 1
RS1597229025 SALL1 Health Risk Likely pathogenic —
RS1597229151 SALL1 Health Risk Likely pathogenic Townes-Brocks syndrome 1, Townes-Brocks syndrome 1
RS1597229404 SALL1 Health Risk Conflicting classifications of pathogenicity Townes-Brocks syndrome 1, Townes-Brocks syndrome 1
RS1597229721 SALL1 Health Risk Pathogenic Townes-Brocks-branchiootorenal-like syndrome, Townes-Brocks-branchiootorenal-like syndrome
RS1597230180 PRPF8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1597230241 SALL1 Health Risk Pathogenic Townes-Brocks syndrome 1, Townes-Brocks syndrome 1
RS1597230288 SALL1 Health Risk Pathogenic Townes syndrome, Townes syndrome
RS1597230341 SALL1 Health Risk Pathogenic Townes-Brocks syndrome 1, Townes-Brocks syndrome 1
RS1597230349 SALL1 Health Risk Pathogenic Townes-Brocks syndrome 1, Townes-Brocks syndrome 1
RS1597230687 SALL1 Health Risk Pathogenic Townes-Brocks syndrome 1, Townes-Brocks syndrome 1
RS1597230909 SALL1 Health Risk Pathogenic Townes-Brocks syndrome 1, Townes-Brocks syndrome 1
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