Source: ALL
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: rs1411364031
rs1411364031
TNF
3 0.882 0.040 6 31577502 missense variant T/C snv 7.0E-06 0.010 1.000 1 2014 2014
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 2018 2018
dbSNP: rs361525
rs361525
TNF
62 0.562 0.760 6 31575324 upstream gene variant G/A snv 4.6E-02 0.010 1.000 1 2016 2016
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.060 0.833 6 2003 2017
dbSNP: rs11536889
rs11536889
TLR4
27 0.658 0.560 9 117715853 3 prime UTR variant G/C snv 0.11 0.010 1.000 1 2017 2017
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 1.000 1 2003 2003
dbSNP: rs6882076
rs6882076
TIMD4
9 0.827 0.160 5 156963286 upstream gene variant T/C snv 0.56 0.010 1.000 1 2019 2019
dbSNP: rs1866389
rs1866389
THBS4
9 0.790 0.080 5 80065442 missense variant G/C snv 0.17 0.17 0.010 < 0.001 1 2004 2004
dbSNP: rs8089
rs8089
THBS2 ; LOC101929523
4 0.851 0.080 6 169217631 splice region variant A/C snv 0.22 0.010 < 0.001 1 2011 2011
dbSNP: rs2228262
rs2228262
THBS1 ; FSIP1
10 0.763 0.200 15 39589977 missense variant A/G snv 7.9E-02 8.0E-02 0.020 0.500 2 2003 2011
dbSNP: rs1042579
rs1042579
THBD
16 0.732 0.240 20 23048087 missense variant G/A;T snv 0.19 0.040 1.000 4 2001 2015
dbSNP: rs147377392
rs147377392
THBD
11 0.763 0.120 20 23048144 missense variant A/G snv 1.0E-04 2.8E-04 0.040 1.000 4 2001 2015
dbSNP: rs753630955
rs753630955
TGM2
3 0.882 0.040 20 38161510 stop gained G/A;T snv 2.0E-05 0.010 1.000 1 2018 2018
dbSNP: rs901895948
rs901895948
TGM2
3 0.882 0.040 20 38131160 missense variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs1830321
rs1830321
TEX41 ; LOC100505498
5 0.827 0.080 2 145067988 intron variant C/T snv 0.40 0.010 1.000 1 2018 2018
dbSNP: rs7903146
rs7903146
TCF7L2
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.020 1.000 2 2008 2009
dbSNP: rs12190287
rs12190287
TCF21
19 0.708 0.280 6 133893387 3 prime UTR variant C/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs237025
rs237025
TAB2 ; SUMO4
26 0.672 0.360 6 149400554 missense variant G/A snv 0.55 0.57 0.010 1.000 1 2009 2009
dbSNP: rs4717806
rs4717806
STX1A ; BUD23 ; LOC105375350
9 0.776 0.200 7 73702147 intron variant T/A;C snv 0.010 1.000 1 2019 2019
dbSNP: rs2297508
rs2297508
SREBF1
8 0.790 0.240 17 17812003 synonymous variant C/G;T snv 0.50; 7.5E-05 0.010 1.000 1 2011 2011
dbSNP: rs16933090
rs16933090
SOX6
7 0.790 0.160 11 16434247 5 prime UTR variant C/T snv 0.12 0.010 1.000 1 2016 2016
dbSNP: rs1799895
rs1799895
SOD3
26 0.683 0.360 4 24800212 missense variant C/G snv 2.3E-02 1.2E-02 0.010 1.000 1 2009 2009
dbSNP: rs2855262
rs2855262
SOD3
1 1.000 0.040 4 24800354 3 prime UTR variant T/C snv 0.50 0.010 1.000 1 2019 2019
dbSNP: rs4880
rs4880
SOD2
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.020 1.000 2 2010 2012
dbSNP: rs1044925
rs1044925
SOAT1
6 0.827 0.120 1 179354603 3 prime UTR variant C/A;G snv 0.010 1.000 1 2014 2014