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: rs1135791
rs1135791
SP110
2 0.925 0.080 2 230177560 missense variant A/G snv 0.42 0.40 0.010 < 0.001 1 2017 2017
dbSNP: rs1893352
rs1893352
TIRAP
1 1.000 0.080 11 126290792 intron variant A/C;G snv 0.010 < 0.001 1 2014 2014
dbSNP: rs2230424
rs2230424
ITGAX
1 1.000 0.080 16 31355997 missense variant T/C snv 8.6E-02 9.0E-02 0.010 < 0.001 1 2009 2009
dbSNP: rs3211956
rs3211956
CD36
3 0.925 0.160 7 80674446 intron variant T/G snv 6.7E-02 0.010 < 0.001 1 2017 2017
dbSNP: rs3809849
rs3809849
MYBBP1A
3 0.882 0.120 17 4555303 missense variant G/C;T snv 0.21; 3.1E-05 0.010 < 0.001 1 2016 2016
dbSNP: rs4331426
rs4331426 		2 0.925 0.080 18 22610832 intergenic variant G/A snv 0.86 0.010 < 0.001 1 2016 2016
dbSNP: rs722555
rs722555
SP110
1 1.000 0.080 2 230168800 non coding transcript exon variant C/T snv 0.57 0.010 < 0.001 1 2017 2017
dbSNP: rs8193036
rs8193036
IL17A
21 0.689 0.600 6 52185695 upstream gene variant C/T snv 0.72 0.010 < 0.001 1 2016 2016
dbSNP: rs9061
rs9061
SP110 ; SP140
2 0.925 0.080 2 230212395 missense variant C/T snv 0.11 9.1E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs9905742
rs9905742
MYBBP1A
1 1.000 0.080 17 4539780 missense variant T/A snv 3.0E-02 2.7E-02 0.010 < 0.001 1 2016 2016
dbSNP: rs11003125
rs11003125
MBL2
7 0.790 0.480 10 52772254 upstream gene variant G/C snv 0.31 0.020 0.500 2 2017 2019
dbSNP: rs7096206
rs7096206
MBL2
17 0.708 0.480 10 52771925 upstream gene variant G/A;C;T snv 0.020 0.500 2 2014 2019
dbSNP: rs1800450
rs1800450
MBL2
26 0.662 0.640 10 52771475 missense variant C/T snv 0.14 0.11 0.030 0.667 3 2014 2019
dbSNP: rs1800629
rs1800629
TNF
169 0.472 0.920 6 31575254 upstream gene variant G/A snv 0.12 0.14 0.030 0.667 3 2011 2017
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
121 0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93 0.040 0.750 4 2009 2017
dbSNP: rs3804099
rs3804099
TLR2
40 0.627 0.680 4 153703504 synonymous variant T/C snv 0.40 0.48 0.040 0.750 4 2013 2019
dbSNP: rs17235409
rs17235409
SLC11A1
31 0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 0.090 1.000 9 2005 2017
dbSNP: rs5743708
rs5743708
TLR2
98 0.525 0.800 4 153705165 missense variant G/A snv 1.7E-02 1.8E-02 0.080 1.000 8 2010 2019
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 1.000 6 2004 2019
dbSNP: rs5743618
rs5743618
TLR1
25 0.677 0.360 4 38797027 missense variant C/A snv 0.53 0.51 0.040 1.000 4 2010 2016
dbSNP: rs1800451
rs1800451
MBL2
9 0.776 0.240 10 52771466 missense variant C/T snv 3.2E-02 7.9E-02 0.030 1.000 3 2011 2019
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.030 1.000 3 2011 2018
dbSNP: rs187084
rs187084
TLR9
36 0.641 0.480 3 52227015 intron variant A/G snv 0.38 0.030 1.000 3 2014 2018
dbSNP: rs3764880
rs3764880
TLR8 ; TLR8-AS1
11 0.752 0.320 X 12906707 start lost A/G snv 0.31 0.30 0.030 1.000 3 2011 2019
dbSNP: rs4986791
rs4986791
TLR4
182 0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02 0.030 1.000 3 2010 2015