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: rs121909269
rs121909269
1 1.000 3 122284647 missense variant G/A snv 3.2E-05 0.700 1.000 1 2008 2008
dbSNP: rs753013993
rs753013993
1 1.000 3 122284010 missense variant A/G snv 5.6E-05 7.0E-06 0.700 1.000 1 2008 2008
dbSNP: rs759027000
rs759027000
1 1.000 3 122284917 missense variant C/T snv 1.2E-05 0.700 1.000 1 2008 2008