DisGeNET - a database of gene-disease associations

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Variants associated to the Gene: MMP13 ×

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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
rs2252070	MMP13	0.752	0.320	11	102955810	upstream gene variant	C/T	snv		0.68	13
rs11828157	MMP13			11	102947395	intron variant	G/A	snv		4.7E-02	5
rs1192694481	MMP13	0.882	0.080	11	102955629	missense variant	C/T	snv	4.0E-06		4
rs1565256477	MMP13	0.925	0.120	11	102955402	missense variant	A/G	snv			4
rs640198	MMP13	0.851	0.040	11	102954362	intron variant	T/G	snv		0.68	4
rs11824953	MMP13			11	102949239	intron variant	C/G	snv		2.7E-02	3
rs121909497	MMP13	0.925	0.080	11	102955390	missense variant	A/G	snv			3
rs121909498	MMP13	0.925	0.080	11	102955393	missense variant	A/G	snv			2
rs121909499	MMP13	0.925	0.080	11	102955342	missense variant	A/G	snv			2
rs121909500	MMP13	0.925	0.080	11	102952117	missense variant	G/T	snv	8.0E-06		2
rs478927	MMP13	0.925	0.080	11	102954097	intron variant	T/C	snv		0.68	2
rs140059558	MMP13	1.000	0.080	11	102954174	missense variant	A/C;G	snv	6.0E-05; 4.0E-06		1
rs369083541	MMP13	1.000	0.080	11	102955289	stop gained	G/A	snv	2.8E-05	7.0E-06	1
rs779122021	MMP13	1.000	0.080	11	102954598	missense variant	T/C	snv	4.0E-06		1