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: rs80358042
rs80358042
BRCA1
3 0.925 0.200 17 43106455 splice donor variant C/A;G;T snv 4.0E-06 0.700 1.000 11 1995 2019