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: rs334558
rs334558
20 0.701 0.320 3 120094435 upstream gene variant A/G snv 0.51 0.020 1.000 2 2012 2018
dbSNP: rs12630592
rs12630592
5 0.851 0.080 3 120049399 intron variant G/A;T snv 0.010 1.000 1 2017 2017