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: rs73184536
rs73184536
1 1.000 0.080 13 37636968 missense variant T/C snv 4.8E-02 4.3E-02 0.010 1.000 1 2011 2011
dbSNP: rs7319926
rs7319926
1 1.000 0.080 13 37706293 intron variant A/G snv 0.51 0.010 1.000 1 2011 2011
dbSNP: rs2295490
rs2295490
16 0.724 0.320 20 388261 missense variant A/G;T snv 0.18; 4.0E-06 0.020 1.000 2 2008 2013
dbSNP: rs17381591
rs17381591
1 1.000 0.080 10 17202049 non coding transcript exon variant T/C snv 0.28 0.700 1.000 1 2011 2011
dbSNP: rs12679196
rs12679196
2 0.925 0.120 8 139800104 intron variant C/T snv 0.13 0.700 1.000 1 2011 2011
dbSNP: rs33980500
rs33980500
14 0.742 0.200 6 111592059 missense variant C/T snv 8.6E-02 9.7E-02 0.010 1.000 1 2018 2018
dbSNP: rs12027041
rs12027041
1 1.000 0.080 1 3674884 intron variant G/C snv 0.38 0.700 1.000 1 2011 2011
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2012 2012
dbSNP: rs3850641
rs3850641
17 0.716 0.400 1 173206693 intron variant A/G snv 0.14 0.060 1.000 6 2005 2019
dbSNP: rs1234313
rs1234313
6 0.807 0.400 1 173197108 intron variant A/G snv 0.72 0.010 1.000 1 2015 2015
dbSNP: rs1234314
rs1234314
7 0.790 0.320 1 173208253 upstream gene variant C/A;G snv 0.010 1.000 1 2019 2019
dbSNP: rs7518045
rs7518045
1 1.000 0.080 1 173194373 intron variant A/G snv 0.11 0.010 1.000 1 2015 2015
dbSNP: rs2453021
rs2453021
6 0.807 0.080 1 7929506 intron variant C/A;T snv 0.010 < 0.001 1 2014 2014
dbSNP: rs17568
rs17568
12 0.752 0.320 1 1212042 synonymous variant C/T snv 0.37 0.31 0.010 1.000 1 2019 2019
dbSNP: rs2298212
rs2298212
2 0.925 0.200 1 1211917 intron variant G/A snv 8.3E-02 8.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs104895285
rs104895285
1 1.000 0.080 12 6330873 missense variant A/T snv 0.010 1.000 1 2008 2008
dbSNP: rs4149584
rs4149584
24 0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02 0.010 1.000 1 2004 2004
dbSNP: rs745738344
rs745738344
TNF
28 0.653 0.600 6 31576786 synonymous variant G/A snv 1.6E-05 1.4E-05 0.020 0.500 2 2003 2005
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 2016 2016
dbSNP: rs58542926
rs58542926
42 0.630 0.440 19 19268740 missense variant C/T snv 6.5E-02 5.8E-02 0.010 1.000 1 2014 2014
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.080 0.750 8 2004 2014
dbSNP: rs4986791
rs4986791
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.020 0.500 2 2004 2006
dbSNP: rs1927911
rs1927911
28 0.658 0.640 9 117707776 intron variant A/G snv 0.62 0.010 1.000 1 2008 2008
dbSNP: rs121917864
rs121917864
31 0.645 0.520 4 153704936 missense variant C/T snv 8.8E-05 9.8E-05 0.010 1.000 1 2008 2008
dbSNP: rs5743708
rs5743708
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.010 1.000 1 2008 2008