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: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.100 0.857 14 2003 2016
dbSNP: rs121913240
rs121913240
24 0.672 0.440 12 25227342 missense variant T/A;C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs121913527
rs121913527
9 0.807 0.320 12 25225628 missense variant C/A;G;T snv 0.010 1.000 1 2015 2015