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 0.050 1.000 5 2011 2014
dbSNP: rs6438552
rs6438552
9 0.790 0.280 3 119912967 intron variant A/G snv 0.54 0.050 0.800 5 2005 2013
dbSNP: rs1732170
rs1732170
1 1.000 0.040 3 119864829 intron variant T/A;C snv 0.010 1.000 1 2019 2019