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
rs11575886	MC3R	1.000	0.080	20	56248494	upstream gene variant	A/G	snv		8.0E-02	1
rs1194182	CD36	1.000	0.080	7	80602188	5 prime UTR variant	G/C	snv		0.53	2
rs121917864	TLR2	0.645	0.520	4	153704936	missense variant	C/T	snv	8.8E-05	9.8E-05	31
rs12212067	FOXO3	0.716	0.320	6	108659993	intron variant	T/G	snv		0.14	20
rs12477677	LINC01857	1.000	0.080	2	207666398	intron variant	T/C	snv		0.22	2
rs12596308	QPRT	0.925	0.120	16	29679875	intron variant	C/A;T	snv			2
rs12998782	MARCO	0.882	0.160	2	118967804	intron variant	C/T	snv		0.19	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
rs1371329921	TLR4	0.925	0.080	9	117712993	stop gained	C/T	snv	4.0E-06	1.4E-05	2
rs1371562	MARCO	1.000	0.080	2	118975372	intron variant	G/T	snv		0.33	1
rs1372834938	KIDINS220	0.763	0.280	2	8812465	missense variant	G/C	snv	4.2E-06		12
rs138968705	TLR6 ; TLR1	0.925	0.080	4	38828278	missense variant	G/A	snv	1.2E-04	2.3E-04	2
rs141555015	TAP2	1.000	0.080	6	32839023	upstream gene variant	GCTTTGTAATTGGAGAAT/-	delins		1.4E-05	1
rs1518111	IL19 ; IL10	0.790	0.360	1	206771300	intron variant	T/C	snv		0.71	9
rs1544410	VDR	0.542	0.760	12	47846052	intron variant	C/A;G;T	snv			78
rs15493	GPHN ; VTI1B ; ARG2	1.000	0.080	14	67651415	missense variant	C/G;T	snv	9.2E-02	8.8E-02	1
rs1554286	IL19 ; IL10	0.790	0.320	1	206770888	5 prime UTR variant	A/G;T	snv	0.72		7
rs1568952		1.000	0.080	8	58799804	intergenic variant	T/C	snv		0.75	1
rs16826860	SP110	1.000	0.080	2	230182908	intron variant	G/A	snv		7.2E-02	1
rs17009726	MARCO	1.000	0.080	2	118967884	intron variant	A/G	snv		1.0E-02	1
rs1718119	LOC105370032 ; P2RX7	0.689	0.520	12	121177300	missense variant	G/A;T	snv	0.35; 4.0E-06		21
rs17235409	SLC11A1	0.653	0.600	2	218395009	missense variant	G/A;C	snv	4.9E-02; 4.1E-06		31
rs17795618	MARCO	1.000	0.080	2	118973892	intron variant	T/A	snv		0.12	1
rs17842268	QPRT	0.925	0.120	16	29672859	intron variant	T/C	snv		0.36	2