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: rs797045175
rs797045175
BRCA1
3 0.882 0.120 17 43095919 splice acceptor variant ACAC/- delins 0.700 1.000 1 2015 2015