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: rs1426868527
rs1426868527
3 1 20633841 missense variant G/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs369634041
rs369634041
3 6 162262647 missense variant C/A;T snv 4.0E-06; 2.0E-05 0.010 1.000 1 2016 2016
dbSNP: rs71653619
rs71653619
4 1.000 0.040 1 7970934 missense variant G/A snv 7.9E-03 7.0E-03 0.010 1.000 1 2016 2016