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 0
dbSNP: rs80358189
rs80358189
BRCA1
6 0.827 0.200 17 43074522 splice acceptor variant C/A;G;T snv 1.2E-05 0.700 0
dbSNP: rs80357475
rs80357475
BRCA1 ; NBR2
6 0.827 0.200 17 43124094 start lost C/A;G;T snv 0.700 0