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: rs1136452
rs1136452
SFTPA1
2 0.925 0.120 10 79612410 missense variant C/A;G;T snv 4.0E-06; 7.0E-03; 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs17886395
rs17886395
SFTPA2
2 0.925 0.120 10 79558907 missense variant C/G snv 0.19 0.16 0.010 1.000 1 2002 2002
dbSNP: rs1372834938
rs1372834938
KIDINS220
12 0.763 0.280 2 8812465 missense variant G/C snv 4.2E-06 0.010 1.000 1 2003 2003
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: 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: 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: rs33996649
rs33996649
PTPN22 ; AP4B1-AS1
13 0.732 0.400 1 113852067 missense variant C/T snv 1.7E-02 1.6E-02 0.020 1.000 2 2009 2017
dbSNP: rs1799864
rs1799864
CCR2
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.010 1.000 1 2009 2009
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: rs373950030
rs373950030
CD209
3 0.882 0.080 19 7744967 missense variant C/T snv 2.0E-05 2.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs763059810
rs763059810
CXCR4
41 0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06 0.010 1.000 1 2009 2009
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: 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: 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
dbSNP: rs8177374
rs8177374
TIRAP
22 0.672 0.520 11 126292948 missense variant C/T snv 0.12 0.11 0.030 1.000 3 2010 2014
dbSNP: rs779826162
rs779826162
TLR1
2 0.925 0.080 4 38796574 missense variant C/T snv 2.0E-05 1.4E-05 0.020 1.000 2 2010 2010
dbSNP: rs1371329921
rs1371329921
TLR4
2 0.925 0.080 9 117712993 stop gained C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs138968705
rs138968705
TLR1 ; TLR6
2 0.925 0.080 4 38828278 missense variant G/A snv 1.2E-04 2.3E-04 0.010 1.000 1 2010 2010
dbSNP: rs370738284
rs370738284
TLR1
1 1.000 0.080 4 38797857 synonymous variant A/G snv 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs5743810
rs5743810
TLR1 ; TLR6
21 0.689 0.360 4 38828729 missense variant A/G snv 0.73 0.72 0.010 1.000 1 2010 2010
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: 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: 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: 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: rs1800871
rs1800871
IL10 ; IL19
108 0.508 0.800 1 206773289 5 prime UTR variant A/G snv 0.69 0.020 1.000 2 2011 2018