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: rs886037891
rs886037891
7 0.790 0.160 7 55155917 missense variant G/T snv 4.0E-06 0.700 0
dbSNP: rs121913465
rs121913465
11 0.763 0.160 7 55181312 missense variant G/T snv 0.010 1.000 1 2013 2013
dbSNP: rs147149347
rs147149347
2 0.925 0.080 7 55181314 missense variant G/A;C;T snv 2.4E-05 0.010 1.000 1 2013 2013
dbSNP: rs397517108
rs397517108
9 0.790 0.120 7 55181312 missense variant GC/TT mnv 0.010 1.000 1 2013 2013