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: rs10754558
rs10754558
20 0.695 0.480 1 247448734 3 prime UTR variant G/C;T snv 0.020 1.000 2 2013 2015
dbSNP: rs12048215
rs12048215
3 0.882 0.160 1 247421289 intron variant A/G snv 0.11 0.010 1.000 1 2011 2011
dbSNP: rs12137901
rs12137901
3 0.882 0.200 1 247417907 intron variant T/C snv 0.26 0.010 < 0.001 1 2015 2015
dbSNP: rs2027432
rs2027432
3 0.882 0.160 1 247415139 upstream gene variant A/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs7512998
rs7512998
3 0.882 0.200 1 247419919 intron variant C/T snv 0.83 0.010 1.000 1 2015 2015