DisGeNET - a database of gene-disease associations

List of associated variants

Tuberculosis, C0041296

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
rs2240190	OAS1	1.000	0.040	12	112908322	intron variant	C/A	snv		4.9E-02	1
rs1131454	OAS1	0.882	0.040	12	112911065	missense variant	G/A;C	snv	0.57		3
rs3811047	IL37	0.807	0.400	2	112913833	missense variant	A/G	snv	0.71	0.60	10
rs2723176	IL37	0.851	0.200	2	112914932	intron variant	A/C;G	snv			4
rs2723186	IL37	0.925	0.160	2	112917503	intron variant	A/G;T	snv		0.91	2
rs2723187	IL37	1.000	0.040	2	112917692	missense variant	C/T	snv	6.8E-02	1.0E-01	2
rs10774671	OAS1	0.732	0.480	12	112919388	splice acceptor variant	G/A;C	snv	0.67		14
rs2476601	AP4B1-AS1 ; PTPN22	0.498	0.800	1	113834946	missense variant	A/G	snv	0.93	0.93	121
rs2737190		0.827	0.120	9	117701903	upstream gene variant	G/A	snv		0.52	6
rs754342091	TLR4	0.790	0.200	9	117712421	missense variant	A/G	snv	3.2E-05	1.4E-05	7
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182
rs3135932	IL10RA	0.677	0.480	11	117993348	missense variant	A/G	snv	0.13	0.11	23
rs4491733	MARCO	1.000	0.040	2	118960452	intron variant	A/G	snv		0.37	1
rs7559955	MARCO	1.000	0.040	2	118967393	intron variant	C/G;T	snv			1
rs12998782	MARCO	0.882	0.160	2	118967804	intron variant	C/T	snv		0.19	3
rs6751745	MARCO	0.925	0.080	2	118983428	intron variant	C/T	snv		0.31	2
rs13389814	MARCO	1.000	0.040	2	118984374	intron variant	A/G	snv		0.11	1
rs4240897	MFN2	1.000	0.040	1	11982698	intron variant	G/A	snv		0.43	1
rs1718119	LOC105370032 ; P2RX7	0.689	0.520	12	121177300	missense variant	G/A;T	snv	0.35; 4.0E-06		21
rs3751143	P2RX7 ; LOC105370032	0.742	0.480	12	121184501	missense variant	A/C;G	snv	0.19; 4.0E-06		12
rs1061624	TNFRSF1B	0.776	0.320	1	12207208	3 prime UTR variant	A/G	snv		0.48	8
rs3397	TNFRSF1B	1.000	0.040	1	12207235	3 prime UTR variant	C/T	snv		0.51	1
rs2069762	IL2	0.672	0.560	4	122456825	upstream gene variant	A/C	snv		0.24	23
rs8177400	TIRAP	0.882	0.160	11	126292695	missense variant	G/A;C;T	snv	2.8E-03; 1.2E-05		4