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: rs104894365
rs104894365
9 0.827 0.320 12 25245345 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs1057519847
rs1057519847
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.010 1.000 1 2018 2018
dbSNP: rs1057519848
rs1057519848
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.010 1.000 1 2018 2018
dbSNP: rs121434568
rs121434568
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.010 1.000 1 2018 2018
dbSNP: rs121434569
rs121434569
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs387907272
rs387907272
73 0.572 0.520 3 38141150 stop lost T/C snv 5.2E-05 7.0E-06 0.010 < 0.001 1 2019 2019
dbSNP: rs554561071
rs554561071
1 6 43777513 missense variant A/G snv 1.2E-05 3.5E-05 0.010 1.000 1 2019 2019
dbSNP: rs868917893
rs868917893
1 X 47171183 missense variant G/T snv 6.0E-06 0.010 1.000 1 2019 2019