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: rs1063192
rs1063192
24 0.695 0.520 9 22003368 3 prime UTR variant G/A;T snv 0.810 1.000 3 2012 2012
dbSNP: rs4977756
rs4977756
24 0.683 0.440 9 22068653 intron variant G/A snv 0.64 0.810 1.000 3 2011 2014
dbSNP: rs10483727
rs10483727
4 0.851 0.040 14 60606157 upstream gene variant T/C snv 0.45 0.800 1.000 4 2012 2016
dbSNP: rs10811645
rs10811645
2 1.000 0.040 9 22049657 intron variant G/A snv 0.59 0.800 1.000 2 2012 2018
dbSNP: rs1333037
rs1333037
3 0.925 0.040 9 22040766 intron variant C/T snv 0.71 0.800 1.000 2 2012 2018
dbSNP: rs2157719
rs2157719
17 0.708 0.360 9 22033367 non coding transcript exon variant C/T snv 0.71 0.800 1.000 2 2012 2015
dbSNP: rs4236601
rs4236601
4 0.882 0.040 7 116522675 upstream gene variant G/A snv 0.28 0.800 1.000 2 2010 2014
dbSNP: rs6573307
rs6573307
1 1.000 0.040 14 60331291 TF binding site variant T/A;G snv 0.800 1.000 2 2012 2018
dbSNP: rs7865618
rs7865618
11 0.776 0.240 9 22031006 non coding transcript exon variant G/A;T snv 0.800 1.000 2 2012 2012
dbSNP: rs7866783
rs7866783
2 1.000 0.040 9 22056360 non coding transcript exon variant A/G snv 0.71 0.800 1.000 2 2012 2016
dbSNP: rs944800
rs944800
1 1.000 0.040 9 22050899 intron variant A/G snv 0.78 0.800 1.000 2 2012 2018
dbSNP: rs944801
rs944801
4 0.882 0.120 9 22051671 intron variant G/A;C snv 0.800 1.000 2 2012 2018
dbSNP: rs284489
rs284489
3 0.882 0.080 8 104945792 intron variant A/G snv 0.45 0.800 1.000 1 2012 2012
dbSNP: rs7588567
rs7588567
3 0.925 0.040 2 133605461 regulatory region variant T/A;C;G snv 0.800 1.000 1 2012 2012
dbSNP: rs523096
rs523096
7 0.827 0.080 9 22019130 intron variant A/G snv 0.30 0.710 1.000 3 2012 2012
dbSNP: rs1192415
rs1192415
4 0.925 0.040 1 91611540 TF binding site variant G/A snv 0.81 0.710 1.000 2 2015 2018
dbSNP: rs2165241
rs2165241
15 0.716 0.360 15 73929861 intron variant T/C snv 0.60 0.710 0.500 2 2008 2010
dbSNP: rs4656461
rs4656461
7 0.827 0.040 1 165717968 TF binding site variant G/A snv 0.85 0.710 1.000 2 2011 2014
dbSNP: rs10965219
rs10965219
4 0.882 0.080 9 22053688 intron variant A/G snv 0.58 0.700 1.000 2 2012 2012
dbSNP: rs2472493
rs2472493
5 0.851 0.040 9 104933567 downstream gene variant G/A snv 0.61 0.700 1.000 2 2014 2018
dbSNP: rs2745572
rs2745572
3 0.925 0.040 6 1548134 intergenic variant A/G snv 0.31 0.700 1.000 2 2016 2018
dbSNP: rs518394
rs518394
6 0.827 0.160 9 22019674 intron variant G/C snv 0.30 0.700 1.000 2 2012 2012
dbSNP: rs564398
rs564398
18 0.716 0.360 9 22029548 3 prime UTR variant T/C snv 0.31 0.28 0.700 1.000 2 2012 2012
dbSNP: rs8181047
rs8181047
7 0.807 0.120 9 22064466 intron variant A/G snv 0.79 0.700 1.000 2 2012 2012
dbSNP: rs10019658
rs10019658
1 1.000 0.040 4 34423326 intergenic variant A/G snv 0.22 0.700 1.000 1 2012 2012