BRCA1, BRCA1 DNA repair associated, 672

N. diseases: 747; N. variants: 2600
Source: ALL
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: rs1799966
0.807 0.280 17 43071077 missense variant T/A;C snv 5.2E-05; 0.35
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas
Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2017 2017