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: rs1554199368
rs1554199368
12 0.827 0.160 5 177256956 missense variant C/T snv 0.700 0
dbSNP: rs121913236
rs121913236
4 0.882 0.160 12 25245321 missense variant G/C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs121917757
rs121917757
4 0.851 0.200 11 534259 stop gained G/A;T snv 1.2E-05 0.010 1.000 1 2016 2016
dbSNP: rs137852671
rs137852671
10 0.790 0.160 11 17394295 missense variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs587777732
rs587777732
9 0.763 0.240 20 44406195 missense variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs780957825
rs780957825
5 0.827 0.160 11 17387211 missense variant G/A;C snv 2.0E-05 0.010 1.000 1 2010 2010