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: rs12313273
rs12313273
4 0.882 0.160 12 121625105 upstream gene variant T/C snv 0.23 0.010 1.000 1 2011 2011
dbSNP: rs6486795
rs6486795
2 0.925 0.120 12 121638011 intron variant T/C snv 0.26 0.010 1.000 1 2011 2011
dbSNP: rs7135617
rs7135617
5 0.827 0.240 12 121631099 intron variant T/C;G snv 0.010 1.000 1 2011 2011