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: rs137852986
rs137852986
BRIP1
13 0.732 0.440 17 61716051 stop gained G/A snv 1.7E-04 1.5E-04 0.700 0
dbSNP: rs28903098
rs28903098
BRIP1
2 0.925 0.080 17 61859862 missense variant G/C;T snv 2.5E-04 0.700 0
dbSNP: rs780020495
rs780020495
BRIP1
4 0.882 0.240 17 61780893 stop gained G/A snv 2.0E-05 0.700 0
dbSNP: rs878855151
rs878855151
BRIP1
4 0.882 0.200 17 61684053 frameshift variant TT/- delins 0.700 0