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: rs137852517
rs137852517
1 1.000 0.160 X 8568252 missense variant G/A snv 2.9E-04 3.7E-04 0.800 1.000 15 1993 2014
dbSNP: rs140812865
rs140812865
1 1.000 0.160 X 8570650 missense variant T/C snv 1.9E-04 6.1E-04 0.700 1.000 15 1993 2014
dbSNP: rs104893837
rs104893837
6 0.807 0.160 4 67740682 missense variant C/T snv 1.8E-03 1.3E-03 0.010 1.000 1 2011 2011
dbSNP: rs74315416
rs74315416
3 0.882 0.160 20 5302677 missense variant A/C snv 2.3E-03 2.1E-03 0.010 1.000 1 2011 2011
dbSNP: rs137900287
rs137900287
1 1.000 0.160 X 8535674 missense variant C/A snv 2.2E-03 2.6E-03 0.700 0