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: rs3827440
rs3827440
6 0.851 0.120 X 79171491 missense variant T/A;C snv 5.5E-06; 0.51 0.050 1.000 5 2014 2019
dbSNP: rs12101255
rs12101255
2 0.925 0.120 14 80984708 intron variant C/T snv 0.37 0.040 1.000 4 2009 2016
dbSNP: rs12101261
rs12101261
1 1.000 0.120 14 80984885 intron variant C/T snv 0.37 0.810 1.000 2 2011 2014
dbSNP: rs17111394
rs17111394
1 1.000 0.120 14 81056784 intron variant T/C snv 0.13 0.710 1.000 2 2011 2019
dbSNP: rs2268458
rs2268458
2 0.925 0.120 14 80996551 intron variant T/C snv 0.20 0.020 0.500 2 2008 2016
dbSNP: rs2284038
rs2284038
1 1.000 0.120 22 37239015 intron variant A/G snv 0.41 0.710 1.000 2 2013 2017
dbSNP: rs2284720
rs2284720
1 1.000 0.120 14 80976823 intron variant A/G snv 0.18 0.710 1.000 2 2011 2013
dbSNP: rs2284722
rs2284722
1 1.000 0.120 14 80978023 intron variant G/A snv 0.27 0.710 1.000 2 2011 2019
dbSNP: rs2294025
rs2294025
TG
1 1.000 0.120 8 133133268 intron variant G/A snv 0.49 0.810 1.000 2 2013 2019
dbSNP: rs2300525
rs2300525
1 1.000 0.120 14 81031049 intron variant T/C snv 0.24 0.710 1.000 2 2011 2019
dbSNP: rs3783949
rs3783949
1 1.000 0.120 14 80982038 non coding transcript exon variant T/G snv 0.48 0.710 1.000 2 2011 2014
dbSNP: rs4903964
rs4903964
1 1.000 0.120 14 81002610 intron variant G/A;C snv 0.710 1.000 2 2011 2019
dbSNP: rs10145099
rs10145099
1 1.000 0.120 14 80990350 intron variant C/T snv 0.35 0.700 1.000 1 2011 2011
dbSNP: rs10197319
rs10197319
1 1.000 0.120 2 203898321 regulatory region variant G/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1044043
rs1044043
1 1.000 0.120 6 32826204 3 prime UTR variant A/C snv 0.82 0.700 1.000 1 2011 2011
dbSNP: rs10908583
rs10908583
1 1.000 0.120 1 157671893 downstream gene variant C/T snv 0.57 0.700 1.000 1 2011 2011
dbSNP: rs111033304
rs111033304
1 1.000 0.120 7 107683334 missense variant A/C;G snv 1.0E-03 0.010 1.000 1 2010 2010
dbSNP: rs11166985
rs11166985
1 1.000 0.120 8 140634077 intron variant A/G snv 0.71 0.010 1.000 1 2018 2018
dbSNP: rs1149386
rs1149386
1 1.000 0.120 1 160471451 TF binding site variant G/C snv 0.96 0.700 1.000 1 2011 2011
dbSNP: rs11571297
rs11571297
3 0.882 0.120 2 203880280 regulatory region variant T/C snv 0.44 0.800 1.000 1 2012 2012
dbSNP: rs12050151
rs12050151
1 1.000 0.120 14 80902473 intron variant T/C;G snv 0.700 1.000 1 2011 2011
dbSNP: rs12136280
rs12136280
1 1.000 0.120 1 203302802 intron variant G/T snv 0.35 0.010 1.000 1 2014 2014
dbSNP: rs121908864
rs121908864
6 0.851 0.120 14 81143416 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs12526548
rs12526548
1 1.000 0.120 6 167017659 intron variant C/T snv 0.43 0.700 1.000 1 2011 2011
dbSNP: rs12653715
rs12653715
1 1.000 0.120 5 147732794 intron variant G/C snv 0.13 0.010 1.000 1 2019 2019