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: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.050 0.200 5 2007 2020
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.010 1.000 1 2017 2017
dbSNP: rs4570625
rs4570625
25 0.724 0.200 12 71938143 upstream gene variant G/T snv 0.27 0.010 1.000 1 2017 2017
dbSNP: rs6994992
rs6994992
13 0.790 0.120 8 31638065 upstream gene variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs945032
rs945032
5 0.882 0.040 14 96204324 upstream gene variant T/C snv 0.78 0.010 1.000 1 2009 2009
dbSNP: rs1060499679
rs1060499679
5 0.851 0.280 12 101770496 inframe deletion GTG/- delins 0.700 0
dbSNP: rs279827
rs279827
2 4 46332685 splice region variant A/G;T snv 0.44 0.41 0.010 1.000 1 2016 2016
dbSNP: rs80359636
rs80359636
7 0.851 0.240 13 32354921 frameshift variant CT/- delins 2.8E-05 0.700 1.000 6 2005 2013
dbSNP: rs1554121671
rs1554121671
4 1.000 6 33440746 frameshift variant -/AGGA delins 0.700 0
dbSNP: rs1554776954
rs1554776954
5 1.000 9 127661133 frameshift variant A/- delins 0.700 0
dbSNP: rs1555462347
rs1555462347
34 0.716 0.520 16 8901028 frameshift variant CT/- delins 0.700 0
dbSNP: rs1569355102
rs1569355102
51 0.695 0.360 21 37472869 frameshift variant TAAC/- delins 0.700 0
dbSNP: rs1059004
rs1059004
4 0.925 0.040 21 33028155 3 prime UTR variant C/A snv 0.41 0.010 1.000 1 2013 2013
dbSNP: rs1126647
rs1126647
8 0.827 0.160 4 73743328 3 prime UTR variant A/T snv 0.31 0.010 1.000 1 2018 2018
dbSNP: rs1133503
rs1133503
4 1.000 0.040 6 95606712 3 prime UTR variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs27072
rs27072
11 0.807 0.120 5 1394407 3 prime UTR variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs3800373
rs3800373
22 0.752 0.200 6 35574699 3 prime UTR variant C/A snv 0.68 0.010 1.000 1 2017 2017
dbSNP: rs3813034
rs3813034
8 0.827 0.160 17 30197786 3 prime UTR variant A/C snv 0.40 0.010 1.000 1 2010 2010
dbSNP: rs5177
rs5177
6 0.851 0.120 1 53246063 3 prime UTR variant G/A;C snv 0.010 1.000 1 2020 2020
dbSNP: rs7224199
rs7224199
7 0.827 0.160 17 30196708 3 prime UTR variant G/T snv 0.49 0.010 < 0.001 1 2020 2020
dbSNP: rs1561515242
rs1561515242
6 1.000 0.080 5 111482938 splice donor variant G/A snv 0.700 0
dbSNP: rs2400707
rs2400707
3 1.000 0.040 5 148825489 5 prime UTR variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs6354
rs6354
16 0.732 0.280 17 30222880 5 prime UTR variant G/C;T snv 0.010 < 0.001 1 2020 2020
dbSNP: rs6296
rs6296
23 0.732 0.160 6 77462543 synonymous variant C/G snv 0.31 0.27 0.020 1.000 2 2003 2005
dbSNP: rs12936511
rs12936511
5 0.925 0.080 17 45807036 synonymous variant C/T snv 3.1E-02 3.0E-02 0.010 1.000 1 2009 2009