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: rs121434568
rs121434568
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.040 1.000 4 2013 2019
dbSNP: rs1057519847
rs1057519847
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.040 1.000 4 2013 2019
dbSNP: rs1057519848
rs1057519848
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.040 1.000 4 2013 2019
dbSNP: rs121913444
rs121913444
18 0.724 0.160 7 55191831 missense variant T/A;C;G snv 0.010 1.000 1 2018 2018
dbSNP: rs397517096
rs397517096
4 0.851 0.120 7 55174776 missense variant TT/CC mnv 0.010 < 0.001 1 2018 2018
dbSNP: rs149248025
rs149248025
1 1.000 7 55201237 missense variant G/A;T snv 8.0E-05; 8.0E-06 0.010 1.000 1 2019 2019