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: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.070 0.857 7 2008 2018
dbSNP: rs3087243
rs3087243
44 0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37 0.030 0.667 3 2015 2018
dbSNP: rs733618
rs733618
12 0.763 0.440 2 203866221 upstream gene variant T/C snv 0.10 0.030 1.000 3 2014 2018
dbSNP: rs4553808
rs4553808
28 0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16 0.020 1.000 2 2015 2018
dbSNP: rs5742909
rs5742909
40 0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02 0.020 1.000 2 2015 2018
dbSNP: rs886041906
rs886041906
6 0.882 0.200 2 203868002 stop gained G/A snv 0.010 1.000 1 2013 2013