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: rs5082
rs5082
8 0.807 0.160 1 161223893 upstream gene variant G/A snv 0.68 0.010 1.000 1 2009 2009
dbSNP: rs5085
rs5085
1 1.000 0.080 1 161222721 intron variant C/G snv 0.16 0.010 1.000 1 2009 2009
dbSNP: rs6413453
rs6413453
1 1.000 0.080 1 161222526 splice region variant G/A snv 0.11 8.5E-02 0.010 1.000 1 2009 2009