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
rs2476601	AP4B1-AS1 ; PTPN22	0.498	0.800	1	113834946	missense variant	A/G	snv	0.93	0.93	121
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	119
rs1800896	IL19 ; IL10	0.507	0.800	1	206773552	intron variant	T/C	snv		0.41	113
rs1800871	IL19 ; IL10	0.508	0.800	1	206773289	5 prime UTR variant	A/G	snv		0.69	108
rs11209026	IL23R	0.597	0.680	1	67240275	missense variant	G/A	snv	4.2E-02	4.6E-02	46
rs33996649	PTPN22 ; AP4B1-AS1	0.732	0.400	1	113852067	missense variant	C/T	snv	1.7E-02	1.6E-02	13
rs3024490	IL10 ; IL19	0.742	0.520	1	206771966	intron variant	A/C;G;T	snv			11
rs1518111	IL19 ; IL10	0.790	0.360	1	206771300	intron variant	T/C	snv		0.71	9
rs3021094	IL10 ; IL19	0.827	0.360	1	206771607	intron variant	T/G	snv		8.0E-02	8
rs1554286	IL19 ; IL10	0.790	0.320	1	206770888	5 prime UTR variant	A/G;T	snv	0.72		7
rs3790622	IL19 ; IL10	0.882	0.320	1	206771818	intron variant	G/A	snv		1.5E-03	3
rs7518660	IL23R ; C1orf141	0.925	0.120	1	67219760	intron variant	G/A	snv	0.43	0.47	2
rs763059810	CXCR4	0.623	0.600	2	136115750	missense variant	T/C	snv	4.0E-06		41
rs17235409	SLC11A1	0.653	0.600	2	218395009	missense variant	G/A;C	snv	4.9E-02; 4.1E-06		31
rs1372834938	KIDINS220	0.763	0.280	2	8812465	missense variant	G/C	snv	4.2E-06		12
rs11568350	SLC40A1	0.790	0.240	2	189565370	missense variant	C/A	snv	3.8E-03	1.6E-02	9
rs1010	VAMP8	0.807	0.120	2	85581859	3 prime UTR variant	T/C;G	snv			7
rs897200	STAT4	0.851	0.280	2	191153045	upstream gene variant	T/C	snv		0.54	4
rs12998782	MARCO	0.882	0.160	2	118967804	intron variant	C/T	snv		0.19	3
rs4252019	IL1RN	0.882	0.160	2	113131542	intron variant	C/T	snv		0.25	3
rs1135791	SP110	0.925	0.080	2	230177560	missense variant	A/G	snv	0.42	0.40	2
rs12477677	LINC01857	1.000	0.080	2	207666398	intron variant	T/C	snv		0.22	2
rs6751745	MARCO	0.925	0.080	2	118983428	intron variant	C/T	snv		0.31	2
rs9061	SP110 ; SP140	0.925	0.080	2	230212395	missense variant	C/T	snv	0.11	9.1E-02	2
rs10208770	SP110	1.000	0.080	2	230170151	intron variant	T/G	snv		0.14	1