DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Tuberculosis ×

Variants associated to the Gene: SP110 ×

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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
rs1135791	SP110	0.925	0.080	2	230177560	missense variant	A/G	snv	0.42	0.40	2
rs9061	SP110 ; SP140	0.925	0.080	2	230212395	missense variant	C/T	snv	0.11	9.1E-02	2
rs2114591	SP110	1.000	0.040	2	230185853	intron variant	G/A;C	snv			1
rs2241525	SP110	1.000	0.040	2	230178086	intron variant	C/T	snv		0.15	1
rs3948464	SP110	1.000	0.040	2	230185999	missense variant	A/C;G	snv	8.0E-06; 0.89		1
rs4327230	SP110	1.000	0.040	2	230182067	intron variant	G/A;C	snv			1
rs11556887	SP110 ; SP140	1.000	0.040	2	230212961	missense variant	G/A	snv	0.10	7.4E-02	1
rs2114592	SP110 ; SP140	1.000	0.040	2	230210491	intron variant	G/A	snv		0.12	1