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: rs587779705
rs587779705
2 0.923 0.143 2 188990316 missense variant G/C,T snp 0.700 8 2000 2016
dbSNP: rs28937869
rs28937869
3 0.878 0.143 5 177608994 missense variant C/T snp 4.8E-05 0.030 1.000 3 2007 2010
dbSNP: rs137853315
rs137853315
5 0.821 0.214 X 154368081 missense variant G/A snp 0.010 1.000 1 2006 2006
dbSNP: rs72645347
rs72645347
8 0.821 0.214 17 50196337 missense variant G/A snp 0.010 1.000 1 2007 2007
dbSNP: rs72648365
rs72648365
2 0.923 0.214 17 50193990 missense variant G/A,C snp 0.010 1.000 1 2007 2007
dbSNP: rs72653170
rs72653170
2 0.923 0.179 17 50188908 missense variant G/A snp 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs72656307
rs72656307
2 0.923 0.214 17 50187968 missense variant G/A snp 2.4E-05 6.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs774934546
rs774934546
3 0.878 0.214 7 94404854 stop gained C/G,T snp 4.0E-06; 4.0E-06 0.010 1.000 1 2007 2007