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: rs6214
rs6214
26 0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45 0.020 1.000 2 2011 2016
dbSNP: rs12423791
rs12423791
5 0.925 0.040 12 102465050 intron variant G/C snv 2.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs5742629
rs5742629
1 1.000 0.040 12 102463485 non coding transcript exon variant T/C snv 0.32 0.010 1.000 1 2012 2012
dbSNP: rs5742632
rs5742632
4 0.851 0.120 12 102462696 intron variant A/G snv 0.26 0.010 1.000 1 2016 2016