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
rs11674595	IL1R2	0.763	0.200	2	101994530	intron variant	T/C	snv		0.22	13
rs4851527	IL1R2	0.790	0.160	2	102005914	intron variant	A/G	snv		0.63	7
rs10490571	IL1R1	0.827	0.320	2	102100877	intron variant	C/T	snv		0.29	5
rs956730	IL1R1	0.925	0.120	2	102141656	intron variant	G/A	snv		0.42	2
rs3917225	IL1R1	0.807	0.160	2	102152842	intron variant	A/G	snv		0.36	6
rs3755276	IL18R1	0.925	0.120	2	102361999	intron variant	C/T	snv		0.45	3
rs1974675	IL18R1	1.000	0.040	2	102369915	intron variant	G/A	snv		0.45	2
rs12294076	DYNC2H1	1.000	0.040	11	103256336	intron variant	T/C	snv		6.8E-02	1
rs1190662183	ICAM3	1.000	0.040	19	10338932	synonymous variant	C/T	snv			1
rs34536443	TYK2	0.667	0.400	19	10352442	missense variant	G/C	snv	2.7E-02	2.8E-02	25
rs9420907	STN1	0.790	0.320	10	103916707	intron variant	C/A;G	snv			7
rs10507172	HSP90B1 ; C12orf73	1.000	0.040	12	103949490	intron variant	G/A	snv		7.2E-02	1
rs10507173	HSP90B1 ; C12orf73	1.000	0.040	12	103950058	intron variant	A/G	snv		6.3E-02	1
rs12212067	FOXO3	0.716	0.320	6	108659993	intron variant	T/G	snv		0.14	20
rs3800229	FOXO3	1.000	0.040	6	108675760	intron variant	G/T	snv		0.54	4
rs4946935	FOXO3	1.000	0.040	6	108679539	intron variant	A/G	snv		0.54	2
rs2273346	TARDBP ; MASP2	1.000	0.040	1	11030840	missense variant	A/G	snv	5.0E-02	5.8E-02	1
rs6695096	MASP2	1.000	0.040	1	11034982	intron variant	C/A;T	snv			1
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	116
rs549908	IL18	0.752	0.440	11	112150193	synonymous variant	T/A;G	snv	4.2E-06; 0.29		10
rs5744247	IL18	1.000	0.040	11	112155433	intron variant	G/C	snv		8.9E-02	1
rs187238	IL18	0.602	0.680	11	112164265	intron variant	C/A;G	snv			48
rs1946518	IL18	0.602	0.760	11	112164735	intron variant	T/G	snv		0.60	46
rs772717932	IL1B	1.000	0.040	2	112830530	missense variant	C/A;T	snv	4.0E-06; 1.6E-05		2
rs16944	IL1B	0.531	0.920	2	112837290	upstream gene variant	A/G	snv		0.57	92