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: rs2524594
rs2524594
PCDH11X
1 1.000 0.120 X 91907119 intron variant G/A snv 0.22 0.700 1.000 1 2009 2009
dbSNP: rs1799889
rs1799889
SERPINE1
31 0.649 0.600 7 101126430 upstream gene variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs6534637
rs6534637
SLC25A31
1 1.000 0.120 4 127728735 upstream gene variant A/C snv 0.45 0.700 1.000 1 2011 2011
dbSNP: rs137853078
rs137853078
STK11
3 0.925 0.120 19 1220396 missense variant G/A snv 0.700 0
dbSNP: rs730881976
rs730881976
STK11
4 0.882 0.240 19 1220702 stop gained C/A;G snv 0.700 0
dbSNP: rs62283056
rs62283056
WFS1
3 0.882 0.280 4 6274903 intron variant G/C snv 0.20 0.010 < 0.001 1 2018 2018