Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1136452
rs1136452
SFTPA1
0.925 0.120 10 79612410 missense variant C/A;G;T snv 4.0E-06; 7.0E-03; 4.0E-06
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2002 2002
dbSNP: rs17886395
rs17886395
SFTPA2
0.925 0.120 10 79558907 missense variant C/G snv 0.19 0.16
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2002 2002
dbSNP: rs1372834938
rs1372834938
KIDINS220
0.763 0.280 2 8812465 missense variant G/C snv 4.2E-06
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2003 2003
dbSNP: rs1799864
rs1799864
CCR2
0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2009 2009
dbSNP: rs2230424
rs2230424
ITGAX
1.000 0.080 16 31355997 missense variant T/C snv 8.6E-02 9.0E-02
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 < 0.001 1 2009 2009
dbSNP: rs373950030
rs373950030
CD209
0.882 0.080 19 7744967 missense variant C/T snv 2.0E-05 2.1E-05
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2009 2009
dbSNP: rs763059810
rs763059810
CXCR4
0.623 0.600 2 136115750 missense variant T/C snv 4.0E-06
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2009 2009
dbSNP: rs779826162
rs779826162
TLR1
0.925 0.080 4 38796574 missense variant C/T snv 2.0E-05 1.4E-05
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.020 1.000 2 2010 2010
dbSNP: rs1371329921
rs1371329921
TLR4
0.925 0.080 9 117712993 stop gained C/T snv 4.0E-06 1.4E-05
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2010 2010
dbSNP: rs138968705
rs138968705
TLR1 ; TLR6
0.925 0.080 4 38828278 missense variant G/A snv 1.2E-04 2.3E-04
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2010 2010
dbSNP: rs370738284
rs370738284
TLR1
1.000 0.080 4 38797857 synonymous variant A/G snv 1.4E-05
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2010 2010
dbSNP: rs5743810
rs5743810
TLR1 ; TLR6
0.689 0.360 4 38828729 missense variant A/G snv 0.73 0.72
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2010 2010
dbSNP: rs1371562
rs1371562
MARCO
1.000 0.080 2 118975372 intron variant G/T snv 0.33
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2011 2011
dbSNP: rs17009726
rs17009726
MARCO
1.000 0.080 2 118967884 intron variant A/G snv 1.0E-02
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2011 2011
dbSNP: rs17795618
rs17795618
MARCO
1.000 0.080 2 118973892 intron variant T/A snv 0.12
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2011 2011
dbSNP: rs1800870
rs1800870
ALDH3A2
0.851 0.200 17 19649164 intron variant C/T snv
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2011 2011
dbSNP: rs1978331
rs1978331
LTA4H
0.827 0.200 12 96015423 intron variant A/G snv 0.50
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2011 2011
dbSNP: rs2011839
rs2011839
MARCO
1.000 0.080 2 118985008 intron variant C/A;T snv
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2011 2011
dbSNP: rs2660898
rs2660898
LTA4H
1.000 0.080 12 96032219 intron variant T/G snv 0.30
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2011 2011
dbSNP: rs2910164
rs2910164
MIR146A ; MIR3142HG
0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2011 2011
dbSNP: rs3746444
rs3746444
MYH7B ; MIR499A ; MIR499B ; LOC107985393
0.514 0.760 20 34990448 mature miRNA variant A/G snv 0.20 0.19
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2011 2011
dbSNP: rs1041981
rs1041981
LTA ; LOC100287329
0.667 0.520 6 31573007 missense variant C/A snv 0.35 0.38
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2012 2012
dbSNP: rs11209026
rs11209026
IL23R
0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2012 2012
dbSNP: rs11568350
rs11568350
SLC40A1
0.790 0.240 2 189565370 missense variant C/A snv 3.8E-03 1.6E-02
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2012 2012
dbSNP: rs1861493
rs1861493
IFNG ; IFNG-AS1
0.851 0.280 12 68157416 intron variant G/A snv 0.76
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2012 2012