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: rs2681472
rs2681472
9 0.882 0.080 12 89615182 intron variant A/G snv 0.14 0.860 1.000 8 2009 2019
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.840 1.000 5 2011 2019
dbSNP: rs13333226
rs13333226
10 0.827 0.200 16 20354332 intron variant A/G snv 0.23 0.810 1.000 2 2010 2016
dbSNP: rs2932538
rs2932538
4 1 112673921 intron variant A/C;G snv 0.810 1.000 2 2011 2013
dbSNP: rs4373814
rs4373814
5 10 18131043 intergenic variant G/C;T snv 0.810 1.000 2 2011 2013
dbSNP: rs6596140
rs6596140
1 5 133686160 intergenic variant C/T snv 0.34 0.810 1.000 1 2012 2012
dbSNP: rs17249754
rs17249754
12 0.882 0.120 12 89666809 intron variant G/A snv 0.15 0.800 0.929 14 2010 2019
dbSNP: rs633185
rs633185
10 0.925 0.080 11 100722807 intron variant G/A;C snv 0.800 1.000 2 2011 2018
dbSNP: rs11014166
rs11014166
10 0.882 0.040 10 18419869 intron variant A/T snv 0.27 0.800 1.000 1 2009 2009
dbSNP: rs1173771
rs1173771
9 5 32814922 regulatory region variant A/G snv 0.65 0.800 1.000 1 2011 2011
dbSNP: rs11953630
rs11953630
6 5 158418394 intergenic variant C/A;T snv 0.800 1.000 1 2011 2011
dbSNP: rs13107325
rs13107325
34 0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 0.800 1.000 1 2011 2011
dbSNP: rs16982520
rs16982520
4 1.000 0.040 20 59183665 intron variant A/G snv 0.14 0.800 1.000 1 2009 2009
dbSNP: rs2521501
rs2521501
FES
10 0.925 0.080 15 90894158 intron variant A/C;T snv 0.800 1.000 1 2011 2011
dbSNP: rs2820037
rs2820037
2 1.000 0.040 1 239273242 intergenic variant A/T snv 0.21 0.800 1.000 1 2007 2007
dbSNP: rs6015450
rs6015450
7 20 59176062 intron variant A/G snv 0.14 0.800 1.000 1 2011 2011
dbSNP: rs805303
rs805303
7 0.925 0.160 6 31648589 intron variant G/A snv 0.45 0.800 1.000 1 2011 2011
dbSNP: rs932764
rs932764
6 10 94136183 intron variant A/G snv 0.38 0.800 1.000 1 2011 2011
dbSNP: rs11191548
rs11191548
10 0.882 0.080 10 103086421 3 prime UTR variant T/C snv 8.6E-02 0.780 1.000 9 2011 2018
dbSNP: rs1004467
rs1004467
13 0.790 0.280 10 102834750 non coding transcript exon variant A/G snv 0.15 0.14 0.760 0.857 7 2011 2018
dbSNP: rs16998073
rs16998073
10 0.925 0.120 4 80263187 upstream gene variant A/G;T snv 0.760 0.857 7 2010 2018
dbSNP: rs820430
rs820430
3 3 27507409 regulatory region variant A/G snv 0.30 0.710 1.000 3 2015 2018
dbSNP: rs11066280
rs11066280
27 0.742 0.280 12 112379979 intron variant T/A snv 7.0E-03 0.710 1.000 2 2014 2015
dbSNP: rs1401982
rs1401982
4 12 89595822 intron variant G/A snv 0.60 0.710 1.000 2 2013 2018
dbSNP: rs1458038
rs1458038
10 0.925 0.120 4 80243569 intergenic variant C/T snv 0.23 0.710 1.000 2 2015 2018