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: rs786203700
rs786203700
BRIP1
4 0.882 0.280 17 61857233 splice acceptor variant T/C snv 4.0E-06 7.0E-06 0.700 1.000 1 2016 2016