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: rs121434569
rs121434569
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.100 1.000 11 2009 2019
dbSNP: rs1057519847
rs1057519847
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.040 1.000 4 2011 2019
dbSNP: rs1057519848
rs1057519848
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.040 1.000 4 2011 2019
dbSNP: rs121434568
rs121434568
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.040 1.000 4 2011 2019
dbSNP: rs1057519861
rs1057519861
15 0.776 0.080 7 55181398 missense variant T/A snv 0.010 1.000 1 2017 2017
dbSNP: rs1405999227
rs1405999227
3 0.925 0.160 7 55156637 missense variant A/G snv 4.0E-06 0.010 1.000 1 2018 2018