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: 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: rs6768300
rs6768300
CISH ; MAPKAPK3
0.925 0.120 3 50611939 5 prime UTR variant C/G snv 0.85
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2017 2017
dbSNP: rs10841845
rs10841845
CLEC4E
0.925 0.200 12 8533837 3 prime UTR variant A/G snv 0.28
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2019 2019
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: 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: 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: rs5917471
rs5917471
CYBB
0.925 0.080 X 37793265 intron variant C/T snv 0.55
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2015 2015
dbSNP: rs4740
rs4740
EBI3
0.827 0.240 19 4236999 missense variant G/A snv 0.34 0.39
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2015 2015
dbSNP: rs2367707
rs2367707
EREG
0.925 0.080 4 74382717 synonymous variant A/G snv 0.79 0.79
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2019 2019
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: rs9939609
rs9939609
FTO
0.559 0.720 16 53786615 intron variant T/A snv 0.41
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.020 1.000 2 2014 2017
dbSNP: rs8050136
rs8050136
FTO
0.716 0.560 16 53782363 intron variant C/A snv 0.40
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2017 2017
dbSNP: rs10421768
rs10421768
HAMP
0.807 0.120 19 35281996 intron variant A/G snv 0.21
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2017 2017
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: rs9272461
rs9272461
HLA-DQA1 ; HLA-DQA2 ; LOC107986589
1.000 0.080 6 32637832 intron variant G/A snv 0.13
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2018 2018
dbSNP: rs9272785
rs9272785
HLA-DQA1 ; HLA-DQA2 ; LOC107986589
0.882 0.080 6 32642624 missense variant G/A snv 0.18 8.7E-02
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2016 2016
dbSNP: rs2430561
rs2430561
IFNG ; IFNG-AS1
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.020 1.000 2 2016 2017
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
dbSNP: rs1861494
rs1861494
IFNG ; IFNG-AS1
0.716 0.400 12 68157629 intron variant C/T snv 0.75
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2012 2012
dbSNP: rs2069705
rs2069705
IFNG ; IFNG-AS1
0.695 0.440 12 68161231 intron variant G/A;C snv
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2017 2017
dbSNP: rs2069718
rs2069718
IFNG ; IFNG-AS1
0.742 0.320 12 68156382 intron variant A/G;T snv 0.50
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: 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: rs9376267
rs9376267
IFNGR1
0.925 0.080 6 137209894 5 prime UTR variant C/T snv 0.22
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2017 2017