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: rs121913279
rs121913279
7 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.710 1.000 1 2013 2017
dbSNP: rs121913273
rs121913273
5 0.605 0.440 3 179218294 missense variant G/A;C snv 0.700 0