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: rs606231248
rs606231248
MRC1
0.882 0.080 10 17849701 missense variant G/A snv 0.32
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.020 1.000 2 2012 2013
dbSNP: rs6761637
rs6761637
MARCO
1.000 0.080 2 118981487 missense variant T/C snv 8.3E-02 0.13
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.020 1.000 2 2011 2018
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: rs10208770
rs10208770
SP110
1.000 0.080 2 230170151 intron variant T/G snv 0.14
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2014 2014
dbSNP: rs10498244
rs10498244
SP110
1.000 0.080 2 230173117 non coding transcript exon variant T/C snv 0.26
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2014 2014
dbSNP: rs1050504
rs1050504
NSMAF
1.000 0.080 8 58583857 3 prime UTR variant C/T snv 0.24
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2017 2017
dbSNP: rs1057141
rs1057141
PSMB9 ; TAP1
1.000 0.080 6 32850997 missense variant T/C snv 0.20 0.20
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2016 2016
dbSNP: rs10841847
rs10841847
CLEC4E
1.000 0.080 12 8535216 intron variant A/G snv 0.58
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2019 2019
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: 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: 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: 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: 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: 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: 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: 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: 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: rs1893352
rs1893352
TIRAP
1.000 0.080 11 126290792 intron variant A/C;G snv
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 < 0.001 1 2014 2014