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: rs587777528
rs587777528
4 0.851 0.320 12 121641471 missense variant C/T snv 0.800 1.000 2 2014 2017
dbSNP: rs786204796
rs786204796
1 1.000 12 121627039 missense variant G/A;C snv 4.2E-06 0.800 1.000 2 2014 2017
dbSNP: rs1555322610
rs1555322610
1 1.000 12 121627037 missense variant C/G snv 0.700 0
dbSNP: rs786204797
rs786204797
1 1.000 12 121641149 missense variant C/T snv 0.700 0