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: rs121909635
rs121909635
6 0.827 0.240 8 38426158 missense variant C/T snv 0.010 < 0.001 1 2006 2006
dbSNP: rs121909636
rs121909636
7 0.827 0.240 8 38414569 stop gained G/A snv 0.010 < 0.001 1 2006 2006
dbSNP: rs267606805
rs267606805
5 0.851 0.240 8 38414173 missense variant G/T snv 0.010 < 0.001 1 2006 2006
dbSNP: rs267606806
rs267606806
5 0.851 0.240 8 38414166 missense variant G/A;C snv 1.2E-05 0.010 < 0.001 1 2006 2006