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: rs121913400
rs121913400
26 0.683 0.360 3 41224610 missense variant C/A;G;T snv 0.810 1.000 5 2000 2016
dbSNP: rs121913228
rs121913228
14 0.742 0.200 3 41224621 missense variant T/C;G snv 0.800 1.000 3 2000 2016
dbSNP: rs28931588
rs28931588
17 0.701 0.200 3 41224606 missense variant G/A;C;T snv 0.700 1.000 2 2014 2016
dbSNP: rs1057519886
rs1057519886
11 0.752 0.240 3 41224609 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs121913396
rs121913396
13 0.732 0.200 3 41224607 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913399
rs121913399
13 0.724 0.200 3 41224612 missense variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs121913403
rs121913403
23 0.683 0.240 3 41224622 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs28931589
rs28931589
17 0.695 0.240 3 41224613 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs775104326
rs775104326
10 0.776 0.160 3 41224995 stop gained C/A;T snv 4.0E-06 0.700 0