DisGeNET - a database of gene-disease associations

List of associated variants

Active tuberculosis, C0151332

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
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
rs2275913	IL17A	0.514	0.760	6	52186235	upstream gene variant	G/A	snv		0.28	105
rs1544410	VDR	0.542	0.760	12	47846052	intron variant	C/A;G;T	snv			78
rs7041	GC	0.576	0.800	4	71752617	missense variant	A/C;T	snv	0.52; 4.0E-06		64
rs4588	GC	0.597	0.720	4	71752606	missense variant	G/A;T	snv	1.6E-05; 0.25		53
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
rs3135932	IL10RA	0.677	0.480	11	117993348	missense variant	A/G	snv	0.13	0.11	23
rs1718119	LOC105370032 ; P2RX7	0.689	0.520	12	121177300	missense variant	G/A;T	snv	0.35; 4.0E-06		21
rs12212067	FOXO3	0.716	0.320	6	108659993	intron variant	T/G	snv		0.14	20
rs2060793	CYP2R1	0.776	0.240	11	14893764	upstream gene variant	A/G	snv		0.63	11
rs2107538	LOC105371744 ; CCL5	0.763	0.360	17	35880776	5 prime UTR variant	C/T	snv		0.27	11
rs3764880	TLR8-AS1 ; TLR8	0.752	0.320	X	12906707	start lost	A/G	snv	0.31	0.30	11
rs10766197	CYP2R1	0.807	0.240	11	14900334	upstream gene variant	G/A;C	snv			6
rs8064821	SOCS3 ; LOC101928674	0.851	0.120	17	78361310	intron variant	C/A	snv		0.17	6
rs1816702	TLR2	0.827	0.120	4	153688371	non coding transcript exon variant	T/C	snv		0.79	6
rs3731865	SLC11A1	0.882	0.160	2	218385280	non coding transcript exon variant	G/A;C;T	snv	0.23; 1.4E-04		5
rs35037722		0.925	0.040	17	78355453	upstream gene variant	G/A;C	snv			2
rs8073782		0.925	0.040	17	27807685	intron variant	C/T	snv		0.27	2
rs2280788	CCL5 ; LOC105371744	0.925	0.040	17	35880401	5 prime UTR variant	G/C	snv		2.0E-02	2
rs10500804	CYP2R1	0.925	0.040	11	14888727	intron variant	T/G	snv		0.35	2
rs73226617	LINC02618	0.925	0.040	3	141681811	intron variant	G/A	snv		4.4E-02	2
rs17722851	NOS2	0.925	0.040	17	27783810	intron variant	T/A	snv		9.9E-02	2
rs3731863	SLC11A1	0.925	0.040	2	218387485	intron variant	C/T	snv		8.0E-02	2
rs4921437	UBLCP1	0.925	0.040	5	159263943	intron variant	T/A;C	snv			2