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: rs119103268
rs119103268
6 0.827 0.080 1 11992689 missense variant C/T snv 0.710 1.000 4 2008 2014
dbSNP: rs28940294
rs28940294
3 0.882 0.080 1 12001423 missense variant G/A snv 4.0E-06 0.700 1.000 1 2006 2006
dbSNP: rs28940291
rs28940291
9 0.776 0.080 1 11992660 missense variant G/A snv 4.0E-06 0.020 1.000 2 2010 2019
dbSNP: rs119103267
rs119103267
7 0.790 0.160 1 12009641 missense variant C/T snv 2.5E-04 2.8E-04 0.010 1.000 1 2015 2015
dbSNP: rs2236057
rs2236057
2 0.925 0.120 1 12002148 intron variant A/G snv 0.65 0.65 0.010 < 0.001 1 2016 2016