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: rs140442947
rs140442947
1 1.000 0.080 3 119865430 intron variant T/C snv 5.9E-03 0.700 1.000 1 2018 2018
dbSNP: rs334558
rs334558
20 0.701 0.320 3 120094435 upstream gene variant A/G snv 0.51 0.050 1.000 5 2009 2015
dbSNP: rs6438552
rs6438552
9 0.790 0.280 3 119912967 intron variant A/G snv 0.54 0.020 1.000 2 2013 2015
dbSNP: rs1189501362
rs1189501362
4 0.882 0.120 3 119863583 missense variant G/A snv 7.0E-06 0.010 1.000 1 2003 2003