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: rs10184428
rs10184428
5 2 164155317 intron variant C/A;G snv 0.700 1.000 3 2018 2018
dbSNP: rs13107325
rs13107325
34 0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 0.700 1.000 3 2011 2018
dbSNP: rs16998073
rs16998073
10 0.925 0.120 4 80263187 upstream gene variant A/G;T snv 0.700 1.000 3 2016 2018
dbSNP: rs633185
rs633185
10 0.925 0.080 11 100722807 intron variant G/A;C snv 0.700 1.000 3 2011 2018
dbSNP: rs13149993
rs13149993
6 4 80237391 regulatory region variant G/A;C snv 0.700 1.000 2 2015 2018
dbSNP: rs17514846
rs17514846
7 0.882 0.120 15 90873320 intron variant C/A;G snv 0.700 1.000 2 2016 2018
dbSNP: rs2067087
rs2067087
6 1.000 0.080 7 27202041 non coding transcript exon variant G/C;T snv 0.700 1.000 2 2018 2018
dbSNP: rs2521501
rs2521501
FES
10 0.925 0.080 15 90894158 intron variant A/C;T snv 0.700 1.000 2 2011 2018
dbSNP: rs4462906
rs4462906
3 3 27551369 upstream gene variant T/A;G snv 0.700 1.000 2 2018 2018
dbSNP: rs4919669
rs4919669
2 10 102712218 intron variant T/A;C snv 0.700 1.000 2 2017 2018
dbSNP: rs5762862
rs5762862
4 22 28856744 intergenic variant G/A;T snv 0.700 1.000 2 2018 2018
dbSNP: rs6418
rs6418
4 8 142914947 intron variant A/C;G snv 0.42 0.700 1.000 2 2018 2018
dbSNP: rs79105258
rs79105258
24 12 111280427 intron variant C/A;T snv 0.700 1.000 2 2018 2018
dbSNP: rs1005902
rs1005902
1 12 112229871 missense variant T/C;G snv 4.1E-06; 0.42 0.700 1.000 1 2016 2016
dbSNP: rs10059884
rs10059884
5 5 32832368 regulatory region variant C/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1060407
rs1060407
1 3 47916547 missense variant G/A;T snv 4.0E-06; 0.29 0.700 1.000 1 2016 2016
dbSNP: rs10766309
rs10766309
2 11 16235171 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs10826334
rs10826334
3 10 59620724 intron variant C/A;G snv 0.700 1.000 1 2013 2013
dbSNP: rs11072518
rs11072518
3 15 74942269 upstream gene variant T/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs11099098
rs11099098
8 0.925 0.120 4 80248758 intergenic variant G/C;T snv 0.700 1.000 1 2018 2018
dbSNP: rs112640876
rs112640876
3 11 1873813 intron variant A/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs12148488
rs12148488
1 15 75090201 intron variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs12258967
rs12258967
5 10 18439030 intron variant C/G;T snv 0.700 1.000 1 2011 2011
dbSNP: rs12579720
rs12579720
2 12 20020830 intron variant C/A;G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs1275984
rs1275984
4 2 26688641 upstream gene variant A/C;G snv 0.700 1.000 1 2018 2018