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: rs35599367
rs35599367
2 1.000 0.080 7 99768693 intron variant G/A snv 3.2E-02 0.010 < 0.001 1 2014 2014
dbSNP: rs121918529
rs121918529
3 0.882 0.080 15 99690400 missense variant C/T snv 6.1E-04 6.5E-04 0.020 0.500 2 2006 2008
dbSNP: rs2895811
rs2895811
4 0.851 0.080 14 99667605 intron variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 < 0.001 1 2015 2015
dbSNP: rs1012841819
rs1012841819
4 0.882 0.160 2 96115728 missense variant G/A snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs2540487
rs2540487
1 1.000 0.080 12 96036005 intron variant C/A;G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs2247570
rs2247570
1 1.000 0.080 12 96028599 intron variant T/C snv 0.33 0.010 1.000 1 2016 2016
dbSNP: rs541811
rs541811
1 1.000 0.080 13 96019856 intron variant G/C;T snv 0.700 1.000 1 2011 2011
dbSNP: rs12026
rs12026
6 0.827 0.240 7 95411704 missense variant G/C snv 0.27 0.27 0.010 1.000 1 2007 2007
dbSNP: rs7493
rs7493
24 0.677 0.440 7 95405463 missense variant G/C snv 0.27 0.27 0.020 1.000 2 2004 2007
dbSNP: rs854560
rs854560
113 0.513 0.800 7 95316772 missense variant A/C;G;N;T snv 0.29 0.030 1.000 3 2004 2016
dbSNP: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.070 0.857 7 2000 2010
dbSNP: rs1058932
rs1058932
1 1.000 0.080 10 95037104 3 prime UTR variant G/A snv 0.22 0.24 0.010 1.000 1 2010 2010
dbSNP: rs1361600
rs1361600
3 0.925 0.120 1 94542362 upstream gene variant C/T snv 0.51 0.010 1.000 1 2009 2009
dbSNP: rs774688955
rs774688955
F3
1 1.000 0.080 1 94541666 5 prime UTR variant G/A;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1324214
rs1324214
F3
3 0.925 0.120 1 94531732 intron variant G/A snv 0.21 0.010 1.000 1 2009 2009
dbSNP: rs3354
rs3354
F3
1 1.000 0.080 1 94530263 3 prime UTR variant C/A;G;T snv 0.28 0.010 1.000 1 2009 2009
dbSNP: rs3917639
rs3917639
2 0.925 0.120 1 94527220 downstream gene variant C/T snv 0.010 1.000 1 2009 2009
dbSNP: rs42524
rs42524
6 0.827 0.160 7 94413927 missense variant C/A;G;T snv 8.0E-06; 0.77; 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs16936752
rs16936752
2 0.925 0.120 9 93301408 intron variant T/G snv 8.3E-02 0.700 1.000 1 2011 2011
dbSNP: rs2295394
rs2295394
1 1.000 0.080 14 92946398 synonymous variant G/A snv 8.4E-02 7.3E-02 0.700 1.000 1 2011 2011
dbSNP: rs1111875
rs1111875
10 0.776 0.360 10 92703125 intergenic variant C/T snv 0.36 0.010 1.000 1 2017 2017
dbSNP: rs2521501
rs2521501
FES
10 0.925 0.080 15 90894158 intron variant A/C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs2270461
rs2270461
1 1.000 0.080 16 89905937 intron variant T/C snv 0.23 0.700 1.000 1 2011 2011
dbSNP: rs2681472
rs2681472
9 0.882 0.080 12 89615182 intron variant A/G snv 0.14 0.700 1.000 1 2015 2015