BRCA2, BRCA2 DNA repair associated, 675

N. diseases: 656; N. variants: 3066
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: rs11571833
rs11571833
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03
CUI: C2931038
Disease: Pancreatic carcinoma, familial
Pancreatic carcinoma, familial
Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2005 2005