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: rs587780226
rs587780226
BRIP1
4 0.882 0.280 17 61799125 stop gained G/A;T snv 1.2E-05 0.700 1.000 4 2016 2017