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: rs80357064
rs80357064
BRCA1
4 0.882 0.200 17 43106478 stop lost A/C;G snv 1.2E-05 0.700 1.000 20 1994 2017