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: rs861539
rs861539
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.080 1.000 8 2009 2014
dbSNP: rs1799794
rs1799794
12 0.763 0.320 14 103712930 splice region variant T/C snv 0.22 0.010 1.000 1 2016 2016
dbSNP: rs1799796
rs1799796
7 0.790 0.240 14 103699590 intron variant T/A;C snv 0.31 0.010 1.000 1 2012 2012
dbSNP: rs861530
rs861530
13 0.732 0.320 14 103707786 3 prime UTR variant T/C snv 0.65 0.010 1.000 1 2016 2016
dbSNP: rs861531
rs861531
3 0.882 0.120 14 103706470 3 prime UTR variant C/A snv 0.32 0.010 1.000 1 2016 2016