Source: CLINVAR ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80358711
rs80358711
BRCA2
3 0.925 0.200 13 32339244 stop gained C/A;G;T snv 8.0E-06 0.700 1.000 9 2000 2014