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: rs1135791
rs1135791
SP110
0.925 0.080 2 230177560 missense variant A/G snv 0.42 0.40
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 < 0.001 1 2017 2017
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: 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: 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: rs11574143
rs11574143
VDR
0.827 0.200 12 47841134 downstream gene variant C/T snv 0.11
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2016 2016
dbSNP: rs11575886
rs11575886
MC3R
1.000 0.080 20 56248494 upstream gene variant A/G snv 8.0E-02
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2014 2014
dbSNP: rs1194182
rs1194182
CD36
1.000 0.080 7 80602188 5 prime UTR variant G/C snv 0.53
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2017 2017
dbSNP: rs12212067
rs12212067
FOXO3
0.716 0.320 6 108659993 intron variant T/G snv 0.14
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2016 2016
dbSNP: rs12477677
rs12477677
LINC01857
1.000 0.080 2 207666398 intron variant T/C snv 0.22
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2017 2017
dbSNP: rs12596308
rs12596308
QPRT
0.925 0.120 16 29679875 intron variant C/A;T snv
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2015 2015
dbSNP: rs12998782
rs12998782
MARCO
0.882 0.160 2 118967804 intron variant C/T snv 0.19
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2017 2017
dbSNP: rs1327474
rs1327474
IFNGR1
0.925 0.080 6 137219938 upstream gene variant C/T snv 0.67
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2017 2017
dbSNP: rs1327475
rs1327475
IFNGR1
0.925 0.080 6 137215318 missense variant G/A snv 0.13 0.12
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2017 2017
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: 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: 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: 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: 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: rs1518111
rs1518111
IL10 ; IL19
0.790 0.360 1 206771300 intron variant T/C snv 0.71
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2018 2018
dbSNP: rs15493
rs15493
ARG2 ; GPHN ; VTI1B
1.000 0.080 14 67651415 missense variant C/G;T snv 9.2E-02 8.8E-02
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2019 2019
dbSNP: rs1554286
rs1554286
IL10 ; IL19
0.790 0.320 1 206770888 5 prime UTR variant A/G;T snv 0.72
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2018 2018
dbSNP: rs1568952
rs1568952 		1.000 0.080 8 58799804 intergenic variant T/C snv 0.75
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2013 2013
dbSNP: rs16826860
rs16826860
SP110
1.000 0.080 2 230182908 intron variant G/A snv 7.2E-02
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2014 2014
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: rs1718119
rs1718119
P2RX7 ; LOC105370032
0.689 0.520 12 121177300 missense variant G/A;T snv 0.35; 4.0E-06
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2013 2013