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: rs10434
rs10434
17 0.701 0.480 6 43785475 3 prime UTR variant A/G snv 0.59 0.010 1.000 1 2014 2014
dbSNP: rs3757
rs3757
5 0.851 0.160 22 20111808 3 prime UTR variant G/A snv 0.21 0.010 1.000 1 2012 2012
dbSNP: rs120074175
rs120074175
7 0.827 0.080 12 72031544 missense variant G/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs12229394
rs12229394
3 0.925 0.080 12 71999134 intron variant G/A snv 0.29 0.010 1.000 1 2010 2010
dbSNP: rs7305115
rs7305115
8 0.807 0.200 12 71979082 synonymous variant A/C;G;T snv 4.0E-06; 0.56 0.010 1.000 1 2015 2015
dbSNP: rs78162420
rs78162420
4 0.882 0.120 12 71941600 missense variant C/A snv 2.1E-03 7.1E-04 0.010 1.000 1 2017 2017
dbSNP: rs1173546708
rs1173546708
5 0.851 0.120 11 18040661 synonymous variant G/A snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs2075650
rs2075650
45 0.662 0.360 19 44892362 intron variant A/G snv 0.13 0.13 0.010 1.000 1 2014 2014
dbSNP: rs1061622
rs1061622
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.010 1.000 1 2018 2018
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 2019 2019
dbSNP: rs10514299
rs10514299
6 0.827 0.120 5 88367793 intron variant C/T snv 0.21 0.010 1.000 1 2018 2018
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2013 2013
dbSNP: rs2291738
rs2291738
8 0.807 0.160 12 56421497 splice region variant T/C snv 0.43 0.39 0.010 1.000 1 2010 2010
dbSNP: rs2291739
rs2291739
6 0.925 0.080 12 56420869 missense variant G/A;C snv 0.49; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs7486220
rs7486220
3 0.925 0.080 12 56443632 intron variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs2736100
rs2736100
83 0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 0.010 1.000 1 2016 2016
dbSNP: rs738499
rs738499
9 0.851 0.120 22 41381096 intron variant G/T snv 0.76 0.010 1.000 1 2012 2012
dbSNP: rs1325757098
rs1325757098
6 0.827 0.160 16 71576223 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs8192625
rs8192625
3 0.925 0.080 6 132571193 missense variant G/A snv 6.2E-02 7.8E-02 0.010 1.000 1 2010 2010
dbSNP: rs397514679
rs397514679
9 0.790 0.200 X 47574321 stop gained G/A snv 0.010 1.000 1 2013 2013
dbSNP: rs4880
rs4880
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2018 2018
dbSNP: rs4523957
rs4523957
SMG6 ; SRR
9 0.790 0.120 17 2305605 intron variant G/T snv 0.54 0.010 1.000 1 2014 2014
dbSNP: rs36010656
rs36010656
4 0.925 0.080 12 20711408 missense variant C/A;T snv 3.4E-02 0.010 1.000 1 2008 2008
dbSNP: rs25531
rs25531
72 0.581 0.520 17 30237328 upstream gene variant T/C snv 0.18 0.100 0.923 13 2008 2017
dbSNP: rs25532
rs25532
5 0.851 0.160 17 30237152 upstream gene variant G/A snv 6.3E-02 0.010 1.000 1 2015 2015