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: rs16944
rs16944
92 0.531 0.920 2 112837290 upstream gene variant A/G snv 0.57 0.020 1.000 2 2015 2019
dbSNP: rs1143627
rs1143627
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.010 1.000 1 2019 2019
dbSNP: rs1143630
rs1143630
5 0.827 0.160 2 112834078 intron variant T/A;G snv 0.010 1.000 1 2019 2019