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: rs1143627
rs1143627
47 0.605 0.760 2 112836810 5 prime UTR variant G/A snv 0.56 0.020 1.000 2 2011 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: rs3917356
rs3917356
4 0.882 0.160 2 112834786 intron variant C/T snv 0.39 0.010 < 0.001 1 2018 2018