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: rs2249825
rs2249825
23 0.695 0.440 13 30463766 5 prime UTR variant G/A;C;T snv 0.020 1.000 2 2012 2019
dbSNP: rs1045411
rs1045411
18 0.708 0.360 13 30459095 3 prime UTR variant C/T snv 0.20 0.010 1.000 1 2019 2019
dbSNP: rs1360485
rs1360485
16 0.742 0.320 13 30457747 3 prime UTR variant C/T snv 0.58 0.010 < 0.001 1 2019 2019