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: rs1718119
rs1718119
21 0.689 0.520 12 121177300 missense variant G/A;T snv 0.35; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs208290
rs208290
1 1.000 0.080 12 121156253 intron variant G/A snv 0.43 0.010 1.000 1 2016 2016
dbSNP: rs2393799
rs2393799
3 0.882 0.200 12 121132209 upstream gene variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs656612
rs656612
1 1.000 0.080 12 121138849 intron variant C/A snv 0.60 0.010 1.000 1 2016 2016
dbSNP: rs7958311
rs7958311
5 0.851 0.160 12 121167552 missense variant G/A;C snv 0.25; 4.0E-06 0.010 1.000 1 2016 2016