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: rs4957796
rs4957796
FER
5 0.851 0.120 5 109066439 intron variant T/C snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs57095329
rs57095329
MIR3142HG
25 0.677 0.480 5 160467840 intron variant A/G snv 7.8E-02 0.010 1.000 1 2014 2014
dbSNP: rs5743867
rs5743867
TOLLIP
3 0.882 0.120 11 1307121 intron variant G/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs5744105
rs5744105
TLR5
2 0.925 0.080 1 223142735 intron variant G/C snv 0.57 0.010 1.000 1 2010 2010
dbSNP: rs595209
rs595209
TIRAP
2 0.925 0.080 11 126292326 intron variant A/C;G snv 0.010 1.000 1 2010 2010
dbSNP: rs6586282
rs6586282
CBS
5 0.882 0.080 21 43058387 intron variant C/T snv 0.010 1.000 1 2016 2016
dbSNP: rs6958571
rs6958571
NOD1
3 0.925 0.080 7 30446094 intron variant A/C;G snv 1.2E-05; 0.25; 5.3E-05 0.010 1.000 1 2017 2017
dbSNP: rs805305
rs805305
DDAH2
3 0.882 0.120 6 31729610 intron variant C/G snv 0.48 0.010 1.000 1 2018 2018
dbSNP: rs842647
rs842647
REL
6 0.827 0.400 2 60892336 intron variant G/A snv 0.62 0.010 1.000 1 2015 2015
dbSNP: rs909253
rs909253
LTA ; LOC100287329
34 0.641 0.600 6 31572536 intron variant A/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs17602729
rs17602729
AMPD1
2 0.925 0.080 1 114693436 stop gained G/A;T snv 8.6E-02 0.010 1.000 1 2015 2015
dbSNP: rs1556408009
rs1556408009
XIAP
3 0.925 0.200 X 123900534 stop gained C/T snv 0.700 0
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.090 0.889 9 2002 2016
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.070 0.857 7 2002 2016
dbSNP: rs1799983
rs1799983
NOS3
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.030 0.667 3 2009 2014
dbSNP: rs5743708
rs5743708
TLR2
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.030 1.000 3 2008 2015
dbSNP: rs1061170
rs1061170
CFH
72 0.561 0.720 1 196690107 missense variant C/T snv 0.68 0.64 0.020 1.000 2 2010 2020
dbSNP: rs1129055
rs1129055
CD86
15 0.724 0.400 3 122119472 missense variant G/A snv 0.30 0.25 0.020 0.500 2 2018 2019
dbSNP: rs1800450
rs1800450
MBL2
26 0.662 0.640 10 52771475 missense variant C/T snv 0.14 0.11 0.020 1.000 2 2014 2015
dbSNP: rs1800777
rs1800777
CETP
17 0.724 0.280 16 56983407 missense variant G/A snv 3.7E-02 2.8E-02 0.020 1.000 2 2018 2019
dbSNP: rs2066844
rs2066844
NOD2
54 0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 0.020 1.000 2 2012 2014
dbSNP: rs2066845
rs2066845
NOD2
46 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.020 1.000 2 2007 2012
dbSNP: rs2232618
rs2232618
LBP
5 0.851 0.160 20 38373117 missense variant T/C snv 9.2E-02 0.12 0.020 1.000 2 2012 2018
dbSNP: rs2234237
rs2234237
TREM1
9 0.763 0.280 6 41282728 missense variant T/A snv 0.13 0.12 0.020 0.500 2 2012 2019
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.020 1.000 2 2018 2019