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: rs161364
rs161364
3 0.925 0.080 17 3574518 intron variant C/T snv 0.22 0.010 1.000 1 2016 2016
dbSNP: rs222747
rs222747
8 0.827 0.240 17 3589906 missense variant C/A;G;T snv 0.72; 4.5E-06 0.010 1.000 1 2013 2013
dbSNP: rs8065080
rs8065080
11 0.827 0.200 17 3577153 missense variant T/C snv 0.37 0.32 0.010 1.000 1 2016 2016