DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Cardiomyopathies ×

Variants associated to the Gene: MYBPC3 ×

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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
rs397516059	MYBPC3	0.851	0.080	11	47349876	frameshift variant	-/A	delins	8.2E-06		5
rs727503166	MYBPC3	0.851	0.080	11	47332110	frameshift variant	T/-	del			5
rs727503204	MYBPC3	0.882	0.080	11	47343020	splice donor variant	C/G;T	snv			5
rs397515905	MYBPC3	0.851	0.080	11	47342719	missense variant	G/A;C;T	snv	4.0E-06; 8.0E-06		4
rs397516029	MYBPC3	0.882	0.080	11	47332569	frameshift variant	G/-;GG	delins	4.0E-06		4
rs727503172	MYBPC3	0.882	0.080	11	47333236	frameshift variant	C/-	del			4
rs727503203	MYBPC3	0.882	0.080	11	47342929	frameshift variant	GG/-;GGG	delins			4
rs397515889	MYBPC3	0.925	0.080	11	47343547	frameshift variant	G/-;GG	delins			3
rs397515903	MYBPC3	0.925	0.080	11	47342745	splice acceptor variant	C/G;T	snv	4.0E-06		3
rs397515934	MYBPC3	0.925	0.080	11	47341140	frameshift variant	A/-	del			3
rs397515960	MYBPC3	0.925	0.080	11	47337791	frameshift variant	-/C	delins			3
rs397515973	MYBPC3	0.925	0.080	11	47337455	frameshift variant	ACGCG/-	delins			3
rs397516028	MYBPC3	1.000	0.080	11	47332594	missense variant	A/G	snv			3
rs397516049	MYBPC3	0.925	0.080	11	47350082	frameshift variant	-/T	delins	3.0E-05	7.0E-06	3
rs397516077	MYBPC3	0.925	0.080	11	47347852	splice region variant	C/T	snv			3
rs727504265	MYBPC3	0.925	0.080	11	47335166	frameshift variant	TG/-	delins		7.0E-06	3
rs727504289	MYBPC3	0.925	0.080	11	47332932	stop gained	G/A;T	snv	8.3E-06; 4.1E-06		3
rs730880336	MYBPC3	0.925	0.040	11	47346254	frameshift variant	-/TGCCG	delins	4.0E-06		3
rs1555122928	MYBPC3	1.000	0.080	11	47347434	frameshift variant	C/-	del			2
rs1565631430	MYBPC3	1.000	0.080	11	47350600	frameshift variant	ATGGGCTCTG/-	del			2
rs199865688	MYBPC3	0.925	0.080	11	47337496	missense variant	C/T	snv	1.5E-03	1.2E-03	2
rs367947846	MYBPC3	1.000	0.040	11	47346298	stop gained	G/A;C	snv	7.7E-05		2
rs368121566	MYBPC3	1.000	0.080	11	47347480	splice acceptor variant	C/A;T	snv			2
rs730880666	MYBPC3	1.000	0.080	11	47333668	frameshift variant	C/TT	delins			2
rs774316050	MYBPC3	1.000	0.040	11	47348485	stop gained	G/A;C;T	snv	8.1E-06		2