DisGeNET - a database of gene-disease associations

List of associated variants

Tuberculosis, Pulmonary, C0041327

Source: ALL

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs56061981	CXCL10 ; ART3	0.851	0.120	4	76023632	intron variant	C/T	snv		7.6E-02	5
rs763059810	CXCR4	0.623	0.600	2	136115750	missense variant	T/C	snv	4.0E-06		41
rs5917471	CYBB	0.925	0.080	X	37793265	intron variant	C/T	snv		0.55	2
rs4740	EBI3	0.827	0.240	19	4236999	missense variant	G/A	snv	0.34	0.39	8
rs2367707	EREG	0.925	0.080	4	74382717	synonymous variant	A/G	snv	0.79	0.79	2
rs12212067	FOXO3	0.716	0.320	6	108659993	intron variant	T/G	snv		0.14	20
rs9939609	FTO	0.559	0.720	16	53786615	intron variant	T/A	snv		0.41	98
rs8050136	FTO	0.716	0.560	16	53782363	intron variant	C/A	snv		0.40	32
rs15493	GPHN ; VTI1B ; ARG2	1.000	0.080	14	67651415	missense variant	C/G;T	snv	9.2E-02	8.8E-02	1
rs10421768	HAMP	0.807	0.120	19	35281996	intron variant	A/G	snv		0.21	6
rs9272461	HLA-DQA2 ; HLA-DQA1 ; LOC107986589	1.000	0.080	6	32637832	intron variant	G/A	snv		0.13	1
rs2069705	IFNG-AS1 ; IFNG	0.695	0.440	12	68161231	intron variant	G/A;C	snv			19
rs1861494	IFNG-AS1 ; IFNG	0.716	0.400	12	68157629	intron variant	C/T	snv		0.75	15
rs2430561	IFNG ; IFNG-AS1	0.590	0.760	12	68158742	intron variant	T/A	snv		0.36	50
rs2069718	IFNG ; IFNG-AS1	0.742	0.320	12	68156382	intron variant	A/G;T	snv		0.50	14
rs1861493	IFNG ; IFNG-AS1	0.851	0.280	12	68157416	intron variant	G/A	snv		0.76	4
rs7749390	IFNGR1	0.882	0.120	6	137219233	5 prime UTR variant	A/G;T	snv	0.43; 4.4E-06		3
rs1327474	IFNGR1	0.925	0.080	6	137219938	upstream gene variant	C/T	snv		0.67	2
rs1327475	IFNGR1	0.925	0.080	6	137215318	missense variant	G/A	snv	0.13	0.12	2
rs9376267	IFNGR1	0.925	0.080	6	137209894	5 prime UTR variant	C/T	snv		0.22	2
rs9376268	IFNGR1	0.925	0.080	6	137211614	intron variant	G/A	snv		0.20	2
rs3024490	IL10 ; IL19	0.742	0.520	1	206771966	intron variant	A/C;G;T	snv			11
rs3021094	IL10 ; IL19	0.827	0.360	1	206771607	intron variant	T/G	snv		8.0E-02	8
rs3135932	IL10RA	0.677	0.480	11	117993348	missense variant	A/G	snv	0.13	0.11	23
rs2275913	IL17A	0.514	0.760	6	52186235	upstream gene variant	G/A	snv		0.28	105