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: rs886037789
rs886037789
BRCA1
1 17 43071159 frameshift variant T/- del 0.700 1.000 1 2016 2016