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: rs121913273
rs121913273
44 0.605 0.440 3 179218294 missense variant G/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs121913279
rs121913279
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1442481831
rs1442481831
2 0.925 0.080 3 179203635 missense variant T/C snv 0.010 1.000 1 2018 2018