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: rs1143623
rs1143623
29 0.677 0.440 2 112838252 upstream gene variant C/G snv 0.24 0.010 1.000 1 2011 2011
dbSNP: rs1143627
rs1143627
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 < 0.001 1 2018 2018
dbSNP: rs1143633
rs1143633
11 0.752 0.280 2 112832890 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.010 < 0.001 1 2018 2018