Source: ALL
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: rs80359584
rs80359584
BRCA2
8 0.807 0.280 13 32340757 frameshift variant CTTAA/- delins 4.2E-06 1.4E-05 0.700 1.000 1 2004 2004