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: rs12252
rs12252
23 0.695 0.240 11 320772 splice region variant A/G snv 0.13 0.13 0.010 1.000 1 2014 2014
dbSNP: rs2070788
rs2070788
1 1.000 21 41470061 intron variant G/A snv 0.59 0.010 1.000 1 2015 2015
dbSNP: rs383510
rs383510
1 1.000 21 41486440 intron variant T/C snv 0.57 0.010 1.000 1 2015 2015