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: rs41274221
rs41274221
6 0.851 0.160 7 100093577 mature miRNA variant C/T snv 6.4E-05 4.9E-05 0.010 1.000 1 2016 2016
dbSNP: rs4919510
rs4919510
32 0.641 0.520 10 100975021 mature miRNA variant C/G snv 0.27 0.27 0.010 1.000 1 2017 2017
dbSNP: rs61991156
rs61991156
2 0.925 0.080 14 101022077 mature miRNA variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs16999593
rs16999593
14 0.742 0.240 19 10180505 missense variant T/C snv 2.4E-02 9.6E-03 0.030 1.000 3 2012 2019
dbSNP: rs3732131
rs3732131
2 0.925 0.080 2 102178143 3 prime UTR variant A/G snv 0.12 0.010 < 0.001 1 2015 2015
dbSNP: rs3771157
rs3771157
2 0.925 0.080 2 102396972 3 prime UTR variant C/A snv 3.7E-02 0.010 < 0.001 1 2015 2015
dbSNP: rs1135354
rs1135354
3 0.925 0.080 2 102397842 3 prime UTR variant T/G snv 0.23 0.010 < 0.001 1 2015 2015
dbSNP: rs6218
rs6218
13 0.732 0.440 12 102399855 3 prime UTR variant A/G snv 2.1E-02 0.010 1.000 1 2015 2015
dbSNP: rs1520220
rs1520220
9 0.807 0.280 12 102402744 intron variant G/C;T snv 0.76 0.010 1.000 1 2011 2011
dbSNP: rs4764887
rs4764887
2 0.925 0.080 12 102430122 intron variant G/A snv 2.2E-02 0.010 1.000 1 2011 2011
dbSNP: rs1536309
rs1536309
7 0.851 0.160 10 102435445 upstream gene variant A/G snv 0.32 0.010 1.000 1 2018 2018
dbSNP: rs917997
rs917997
20 0.701 0.480 2 102454108 downstream gene variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs5742612
rs5742612
11 0.752 0.440 12 102481086 intron variant A/G snv 5.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs28362491
rs28362491
56 0.592 0.720 4 102500998 non coding transcript exon variant ATTG/- delins 0.010 1.000 1 2014 2014
dbSNP: rs4648068
rs4648068
9 0.790 0.240 4 102597148 intron variant A/G snv 0.31 0.030 1.000 3 2012 2015
dbSNP: rs3774968
rs3774968
4 0.882 0.120 4 102609955 intron variant A/G snv 0.64 0.010 1.000 1 2014 2014
dbSNP: rs1799750
rs1799750
48 0.592 0.760 11 102799765 intron variant C/- delins 0.50 0.010 1.000 1 2015 2015
dbSNP: rs2094258
rs2094258
20 0.701 0.280 13 102844409 intron variant C/T snv 0.18 0.060 0.833 6 2016 2019
dbSNP: rs751402
rs751402
15 0.724 0.360 13 102845848 5 prime UTR variant A/G snv 0.76 0.100 0.833 12 2012 2019
dbSNP: rs2296147
rs2296147
21 0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38 0.030 1.000 3 2012 2019
dbSNP: rs5498
rs5498
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 1.000 1 2012 2012
dbSNP: rs1047768
rs1047768
20 0.695 0.320 13 102852167 synonymous variant T/C snv 0.52 0.59 0.030 0.667 3 2009 2017
dbSNP: rs2227869
rs2227869
9 0.790 0.240 13 102862735 missense variant G/A;C snv 4.3E-02 0.020 1.000 2 2009 2017
dbSNP: rs17655
rs17655
52 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.050 0.800 5 2009 2018
dbSNP: rs873601
rs873601
25 0.677 0.360 13 102875987 3 prime UTR variant G/A snv 0.59 0.020 1.000 2 2016 2017