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: rs1293387481
rs1293387481
PGR
3 0.925 0.080 11 101062537 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs80356952
rs80356952
BRCA1
9 0.790 0.200 17 43093901 stop gained G/A snv 0.010 1.000 1 2009 2009