BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 5; N. variants: 98
Source: UNIPROT ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80356892
rs80356892
1.000 0.080 17 43092965 missense variant A/G snv 1.7E-03 4.5E-04
CUI: C1336076
Disease: Sporadic Breast Carcinoma
Sporadic Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.700 0