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 2010 2012
dbSNP: rs777521033
rs777521033
1 1.000 1 109923705 missense variant G/A;T snv 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs763059810
rs763059810
41 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 0.030 1.000 3 2002 2014
dbSNP: rs1143634
rs1143634
52 0.597 0.680 2 112832813 synonymous variant G/A snv 0.19 0.19 0.010 1.000 1 2012 2012
dbSNP: rs17169
rs17169
5 0.925 2 8037334 intron variant G/T snv 0.13 0.700 1.000 1 2015 2015
dbSNP: rs371074389
rs371074389
16 0.732 0.320 2 136115226 synonymous variant C/T snv 4.0E-06 4.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs6542826
rs6542826
5 0.925 2 109433263 intron variant A/G snv 0.51 0.700 1.000 1 2017 2017
dbSNP: rs6723162
rs6723162
5 0.925 2 70875156 intergenic variant A/T snv 0.65 0.700 1.000 1 2017 2017
dbSNP: rs7576600
rs7576600
5 0.925 2 40840846 intergenic variant C/A;G snv 0.700 1.000 1 2015 2015
dbSNP: rs766914563
rs766914563
16 0.732 0.320 2 136115082 synonymous variant C/T snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs781172058
rs781172058
16 0.732 0.320 2 136115340 synonymous variant C/T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1799864
rs1799864
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.070 0.857 7 2002 2015
dbSNP: rs1015164
rs1015164
8 0.925 3 46410189 intron variant A/C;G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs1126477
rs1126477
LTF
7 0.807 0.200 3 46459778 missense variant C/T snv 0.34 0.53 0.010 1.000 1 2015 2015
dbSNP: rs1126478
rs1126478
LTF
11 0.763 0.240 3 46459723 missense variant T/C snv 0.41 0.51 0.010 1.000 1 2015 2015
dbSNP: rs13064773
rs13064773
5 0.925 3 158893105 intergenic variant G/A snv 0.39 0.700 1.000 1 2015 2015
dbSNP: rs147879075
rs147879075
1 1.000 3 46373902 stop gained C/A;G;T snv 1.6E-05; 8.2E-06; 4.1E-06 0.010 1.000 1 2015 2015
dbSNP: rs16823858
rs16823858
5 0.925 3 115559835 intron variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs17038463
rs17038463
5 0.925 3 1383484 intron variant T/C;G snv 0.700 1.000 1 2017 2017
dbSNP: rs183662584
rs183662584
2 1.000 3 46373218 missense variant G/A snv 5.2E-04 1.5E-04 0.010 1.000 1 2004 2004
dbSNP: rs184279915
rs184279915
1 1.000 3 46373708 missense variant G/A;T snv 3.2E-05; 1.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs541069027
rs541069027
1 1.000 3 46373290 missense variant G/A snv 1.8E-04 4.2E-05 0.010 1.000 1 2014 2014
dbSNP: rs73132848
rs73132848
6 0.882 0.080 3 8764738 intron variant G/A snv 9.3E-02 0.700 1.000 1 2016 2016
dbSNP: rs3775291
rs3775291
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.010 1.000 1 2013 2013
dbSNP: rs4704846
rs4704846
2 1.000 5 157086333 3 prime UTR variant G/A snv 0.79 0.010 1.000 1 2014 2014