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: rs121913387
rs121913387
6 0.827 0.160 9 21971187 stop gained G/A;C snv 4.6E-06 0.010 1.000 1 2006 2006
dbSNP: rs1444669684
rs1444669684
36 0.658 0.480 9 21994285 missense variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs3731239
rs3731239
10 0.763 0.240 9 21974219 intron variant A/G snv 0.26 0.010 1.000 1 2014 2014
dbSNP: rs3731249
rs3731249
23 0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 0.010 1.000 1 2006 2006