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: rs1420101
rs1420101
8 0.827 0.280 2 102341256 synonymous variant C/T snv 0.33 0.35 0.710 0.500 2 2010 2019
dbSNP: rs6543124
rs6543124
1 1.000 0.120 2 102370999 intron variant T/A snv 0.44 0.700 1.000 1 2019 2019
dbSNP: rs4807542
rs4807542
3 1.000 0.120 19 1104079 synonymous variant G/A;C snv 0.22; 1.8E-05 0.700 1.000 1 2019 2019
dbSNP: rs1837253
rs1837253
10 0.790 0.240 5 111066174 upstream gene variant T/C snv 0.72 0.700 1.000 1 2019 2019
dbSNP: rs8046011
rs8046011
3 1.000 0.120 16 11226805 downstream gene variant G/A;T snv 0.700 1.000 1 2019 2019
dbSNP: rs3807213
rs3807213
3 0.882 0.200 7 112465699 intron variant G/T snv 0.57 0.010 1.000 1 2015 2015
dbSNP: rs7817
rs7817
2 0.925 0.200 7 112475603 3 prime UTR variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs74767530
rs74767530
5 0.851 0.320 7 117627537 stop gained C/T snv 5.6E-05 4.9E-05 0.010 1.000 1 1993 1993
dbSNP: rs4150407
rs4150407
3 1.000 0.120 2 127292055 3 prime UTR variant T/C snv 0.47 0.010 1.000 1 2017 2017
dbSNP: rs1050152
rs1050152
10 0.776 0.480 5 132340627 missense variant C/T snv 0.29 0.28 0.700 1.000 1 2019 2019
dbSNP: rs2427827
rs2427827
2 1.000 0.120 1 159302021 intron variant T/C snv 0.65 0.010 1.000 1 2018 2018
dbSNP: rs113795008
rs113795008
1 1.000 0.120 11 192836 intron variant A/G snv 0.17 0.010 1.000 1 2018 2018
dbSNP: rs2280540
rs2280540
1 1.000 0.120 11 192997 intron variant G/A;C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2428494
rs2428494
5 0.827 0.160 6 31354420 intron variant T/A;C snv 0.700 1.000 1 2019 2019
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.020 1.000 2 2009 2018
dbSNP: rs9268644
rs9268644
5 0.827 0.360 6 32440267 intron variant A/C snv 0.68 0.010 1.000 1 2012 2012
dbSNP: rs3129878
rs3129878
6 0.807 0.360 6 32440958 intron variant A/C snv 0.30 0.010 1.000 1 2012 2012
dbSNP: rs28383314
rs28383314
5 0.925 0.160 6 32619436 regulatory region variant T/C snv 0.61 0.700 1.000 1 2019 2019
dbSNP: rs1391371
rs1391371
2 0.925 0.160 6 32636021 intron variant A/C;T snv 0.700 1.000 1 2019 2019
dbSNP: rs1129844
rs1129844
13 0.752 0.320 17 34285875 missense variant G/A;C;T snv 0.16; 1.2E-05 0.010 < 0.001 1 2011 2011
dbSNP: rs338598
rs338598
1 1.000 0.120 19 41195623 intron variant C/A;G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2017 2017
dbSNP: rs13181
rs13181
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2017 2017
dbSNP: rs759412116
rs759412116
55 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.010 1.000 1 2017 2017
dbSNP: rs34210653
rs34210653
8 0.807 0.280 17 4632019 missense variant G/A snv 2.7E-02 1.7E-02 0.710 1.000 1 2019 2019