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: rs7521902
rs7521902
4 1.000 0.040 1 22164231 intergenic variant C/A snv 0.22 0.850 1.000 7 2012 2017
dbSNP: rs10859871
rs10859871
2 1.000 0.040 12 95318100 intron variant A/C snv 0.37 0.850 1.000 5 2012 2017
dbSNP: rs13394619
rs13394619
1 1.000 0.040 2 11587381 splice acceptor variant G/A snv 0.53 0.61 0.840 1.000 4 2012 2015
dbSNP: rs12700667
rs12700667
2 0.925 0.080 7 25862019 intergenic variant G/A snv 0.63 0.820 1.000 5 2011 2017
dbSNP: rs2235529
rs2235529
3 1.000 0.040 1 22123994 intron variant C/T snv 0.13 0.820 1.000 3 2013 2020
dbSNP: rs4141819
rs4141819
2 1.000 0.040 2 67637543 intron variant C/T snv 0.71 0.820 1.000 3 2012 2015
dbSNP: rs10965235
rs10965235
1 1.000 0.040 9 22115106 intron variant C/A snv 0.15 0.820 1.000 2 2010 2014
dbSNP: rs1537377
rs1537377
1 1.000 0.040 9 22169701 regulatory region variant T/C snv 0.44 0.810 1.000 3 2012 2017
dbSNP: rs7739264
rs7739264
1 1.000 0.040 6 19785357 intron variant C/G;T snv 0.810 1.000 2 2012 2015
dbSNP: rs6907340
rs6907340
1 1.000 0.040 6 19803537 non coding transcript exon variant C/T snv 0.47 0.800 1.000 2 2012 2013
dbSNP: rs10508881
rs10508881
1 1.000 0.040 10 44046117 regulatory region variant A/G snv 0.50 0.800 1.000 1 2013 2013
dbSNP: rs10917151
rs10917151
3 0.925 0.040 1 22096228 3 prime UTR variant G/A snv 0.14 0.800 1.000 1 2013 2013
dbSNP: rs10975519
rs10975519
1 1.000 0.040 9 6253571 synonymous variant C/T snv 0.38 0.35 0.800 1.000 1 2013 2013
dbSNP: rs12449465
rs12449465
1 1.000 0.040 17 3126260 downstream gene variant T/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs2270221
rs2270221
1 1.000 0.040 7 31864413 intron variant C/A;T snv 0.800 1.000 1 2013 2013
dbSNP: rs2738113
rs2738113
1 1.000 0.040 8 6971563 upstream gene variant G/A;T snv 0.800 1.000 1 2011 2011
dbSNP: rs6757804
rs6757804
1 1.000 0.040 2 150779318 regulatory region variant C/T snv 0.58 0.800 1.000 1 2013 2013
dbSNP: rs16826658
rs16826658
1 1.000 0.040 1 22159378 downstream gene variant T/G snv 0.32 0.750 1.000 6 2010 2020
dbSNP: rs11674184
rs11674184
1 1.000 0.040 2 11581409 intron variant T/A;G snv 0.710 0.500 2 2017 2019
dbSNP: rs10129516
rs10129516
1 1.000 0.040 14 63133372 intron variant T/A;C snv 0.710 < 0.001 1 2017 2017
dbSNP: rs644045
rs644045
4 0.851 0.240 6 31916180 intron variant A/G snv 0.72 0.710 1.000 1 2017 2017
dbSNP: rs10131751
rs10131751
1 1.000 0.040 14 28212010 intergenic variant C/A snv 9.2E-02 0.700 1.000 1 2017 2017
dbSNP: rs10167914
rs10167914
1 1.000 0.040 2 112805784 TF binding site variant A/G snv 0.31 0.700 1.000 1 2017 2017
dbSNP: rs10282436
rs10282436
1 1.000 0.040 7 25833490 upstream gene variant G/T snv 0.19 0.700 1.000 1 2012 2012
dbSNP: rs10419023
rs10419023
1 1.000 0.040 19 48427965 intron variant C/T snv 0.13 0.700 1.000 1 2017 2017