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: 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: 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: rs4252019
rs4252019
IL1RN
0.882 0.160 2 113131542 intron variant C/T snv 0.25
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2012 2012
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.040 0.750 4 2009 2017
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
dbSNP: rs10759931
rs10759931 		0.790 0.360 9 117701869 upstream gene variant G/A;T snv
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2015 2015
dbSNP: rs2737190
rs2737190 		0.827 0.120 9 117701903 upstream gene variant G/A snv 0.52
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2019 2019
dbSNP: rs10759932
rs10759932
TLR4
0.732 0.560 9 117702866 upstream gene variant T/C snv 0.18
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2019 2019
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: rs4986790
rs4986790
TLR4
0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.060 1.000 6 2004 2019
dbSNP: rs4986791
rs4986791
TLR4
0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.030 1.000 3 2010 2015
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: rs1927906
rs1927906
TLR4
1.000 0.080 9 117717837 3 prime UTR variant T/C snv 0.20
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2019 2019
dbSNP: rs3135932
rs3135932
IL10RA
0.677 0.480 11 117993348 missense variant A/G snv 0.13 0.11
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2012 2012
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: 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: rs2278589
rs2278589
MARCO
1.000 0.080 2 118971300 intron variant G/A;C snv
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2016 2016
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: 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: 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: rs6751745
rs6751745
MARCO
0.925 0.080 2 118983428 intron variant C/T snv 0.31
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2016 2016
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: rs2522137
rs2522137
MSI1
0.827 0.120 12 120342128 3 prime UTR variant T/A;C;G snv
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2014 2014
dbSNP: rs2393799
rs2393799
P2RX7 ; LOC105370032
0.882 0.200 12 121132209 upstream gene variant C/A;T snv
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2013 2013
dbSNP: rs656612
rs656612
P2RX7 ; LOC105370032
1.000 0.080 12 121138849 intron variant C/A snv 0.60
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2016 2016