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: rs1057519847
rs1057519847
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.010 1.000 1 2019 2019
dbSNP: rs1057519848
rs1057519848
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.010 1.000 1 2019 2019
dbSNP: rs121434568
rs121434568
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs2072454
rs2072454
9 0.763 0.160 7 55146655 synonymous variant C/T snv 0.51 0.51 0.010 1.000 1 2013 2013
dbSNP: rs373129709
rs373129709
7 0.827 0.120 7 55019338 missense variant G/A;T snv 1.1E-04 0.010 1.000 1 2015 2015
dbSNP: rs748491031
rs748491031
8 0.827 0.120 7 55200384 stop gained C/G;T snv 1.2E-05 0.010 1.000 1 2019 2019