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: rs12044149
rs12044149
2 0.925 0.080 1 67135003 intron variant G/C;T snv 0.710 1.000 1 2015 2015
dbSNP: rs4655683
rs4655683
1 1.000 0.080 1 67145930 intron variant G/A snv 0.37 0.700 1.000 1 2019 2019
dbSNP: rs7530511
rs7530511
12 0.742 0.400 1 67219704 missense variant T/A;C snv 0.88 0.030 1.000 3 2008 2012
dbSNP: rs2201841
rs2201841
14 0.716 0.440 1 67228519 intron variant A/G;T snv 0.020 1.000 2 2012 2014