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: rs7486184
rs7486184
1 1.000 0.120 12 88453224 regulatory region variant A/G;T snv 0.700 1.000 2 2009 2011
dbSNP: rs6490478
rs6490478
1 1.000 0.120 13 30702591 intergenic variant G/T snv 0.62 0.700 1.000 1 2011 2011
dbSNP: rs1048943
rs1048943
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2019 2019
dbSNP: rs137853078
rs137853078
3 0.925 0.120 19 1220396 missense variant G/A snv 0.700 0
dbSNP: rs730881976
rs730881976
4 0.882 0.240 19 1220702 stop gained C/A;G snv 0.700 0
dbSNP: rs2524594
rs2524594
1 1.000 0.120 X 91907119 intron variant G/A snv 0.22 0.700 1.000 1 2009 2009