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: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.020 0.500 2 2003 2015
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.020 0.500 2 2008 2012
dbSNP: rs10036748
rs10036748
TNIP1
11 0.752 0.360 5 151078585 intron variant C/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1061622
rs1061622
TNFRSF1B
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.010 1.000 1 2001 2001
dbSNP: rs10847697
rs10847697
SLC15A4
3 0.882 0.200 12 128814840 synonymous variant G/A snv 0.13 9.1E-02 0.010 1.000 1 2010 2010
dbSNP: rs1195782955
rs1195782955
MPO
1 1.000 0.040 17 58279411 synonymous variant C/T snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1222213359
rs1222213359
VEGFA
62 0.574 0.720 6 43770966 missense variant G/A snv 0.010 < 0.001 1 2014 2014
dbSNP: rs13385731
rs13385731
RASGRP3
3 0.882 0.200 2 33476823 intron variant T/C snv 6.3E-02 0.010 1.000 1 2010 2010
dbSNP: rs16925200
rs16925200
KDM4C
1 1.000 0.040 9 7045058 intron variant T/C snv 4.3E-02 0.010 1.000 1 2018 2018
dbSNP: rs16972959
rs16972959
PRKCB
2 0.925 0.120 16 23890055 intron variant G/A snv 0.15 0.010 1.000 1 2018 2018
dbSNP: rs1799969
rs1799969
ICAM1
38 0.637 0.560 19 10284116 missense variant G/A snv 0.11 9.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs1805094
rs1805094
LEPR
16 0.716 0.440 1 65610269 missense variant G/C;T snv 0.16; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs2298804
rs2298804
FCER1A
4 0.851 0.240 1 159304102 missense variant A/G;T snv 6.6E-03 0.010 < 0.001 1 2013 2013
dbSNP: rs3743930
rs3743930
MEFV
43 0.611 0.720 16 3254626 missense variant C/G;T snv 7.1E-02 0.010 1.000 1 2005 2005
dbSNP: rs3788013
rs3788013
UBASH3A
5 0.851 0.240 21 42421219 intron variant C/A snv 0.44 0.010 1.000 1 2015 2015
dbSNP: rs4639966
rs4639966
LOC105369519
2 0.925 0.120 11 118702810 intron variant T/C snv 0.23 0.010 1.000 1 2012 2012
dbSNP: rs4917014
rs4917014 		8 0.807 0.360 7 50266267 upstream gene variant T/G snv 0.26 0.010 1.000 1 2010 2010
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.010 < 0.001 1 2013 2013
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
99 0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37 0.010 1.000 1 2016 2016
dbSNP: rs5743708
rs5743708
TLR2
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.010 < 0.001 1 2013 2013
dbSNP: rs61752717
rs61752717
MEFV
72 0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 0.010 1.000 1 2014 2014
dbSNP: rs6590330
rs6590330 		5 0.851 0.280 11 128441164 intergenic variant G/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs6822844
rs6822844 		20 0.689 0.520 4 122588266 regulatory region variant G/T snv 0.10 0.010 1.000 1 2011 2011