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: rs386699558
rs386699558
HLA-DQA1 ; HLA-DQA2 ; LOC107986589
0.882 0.080 6 32642624 missense variant GCC/ACA mnv
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2016 2016
dbSNP: rs3923647
rs3923647
TLR1
0.925 0.080 4 38797918 missense variant T/A;C;G snv 2.7E-02; 4.0E-06; 1.6E-05
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2016 2016
dbSNP: rs414171
rs414171
CISH ; MAPKAPK3
0.790 0.200 3 50612068 5 prime UTR variant A/G;T snv
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2017 2017
dbSNP: rs4988453
rs4988453
ACAA1 ; MYD88
0.851 0.200 3 38137763 upstream gene variant C/A;T snv
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2019 2019
dbSNP: rs549908
rs549908
IL18
0.752 0.440 11 112150193 synonymous variant T/A;G snv 4.2E-06; 0.29
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2019 2019
dbSNP: rs5743551
rs5743551
TLR1
0.742 0.240 4 38806033 intron variant T/A;C snv
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2016 2016
dbSNP: rs574386
rs574386
SPRY3 ; TMLHE
1.000 0.080 X 155617828 intron variant C/G;T snv
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2015 2015
dbSNP: rs5743867
rs5743867
TOLLIP
0.882 0.120 11 1307121 intron variant G/A;C snv
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2018 2018
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: rs7749390
rs7749390
IFNGR1
0.882 0.120 6 137219233 5 prime UTR variant A/G;T snv 0.43; 4.4E-06
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2017 2017
dbSNP: rs7873784
rs7873784
TLR4
0.752 0.440 9 117716658 3 prime UTR variant G/A;C;T snv
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2015 2015
dbSNP: rs7958311
rs7958311
P2RX7 ; LOC105370032
0.851 0.160 12 121167552 missense variant G/A;C snv 0.25; 4.0E-06
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2016 2016
dbSNP: rs141555015
rs141555015
TAP2
1.000 0.080 6 32839023 upstream gene variant GCTTTGTAATTGGAGAAT/- delins 1.4E-05
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2016 2016
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: 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: 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: rs121917864
rs121917864
TLR2
0.645 0.520 4 153704936 missense variant C/T snv 8.8E-05 9.8E-05
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.020 1.000 2 2014 2017
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: rs3790622
rs3790622
IL10 ; IL19
0.882 0.320 1 206771818 intron variant G/A snv 1.5E-03
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2018 2018
dbSNP: rs11574079
rs11574079
VDR
1.000 0.080 12 47858947 intron variant C/T snv 1.7E-03
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2016 2016
dbSNP: rs34069356
rs34069356
CTSZ
0.925 0.080 20 58995705 missense variant C/T snv 1.1E-03 4.3E-03
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2013 2013
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: 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: rs33996649
rs33996649
PTPN22 ; AP4B1-AS1
0.732 0.400 1 113852067 missense variant C/T snv 1.7E-02 1.6E-02
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.020 1.000 2 2009 2017