DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Cardiomyopathy, Dilated ×

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
rs727503204	MYBPC3	0.882	0.080	11	47343020	splice donor variant	C/G;T	snv			5
rs397516028	MYBPC3	1.000	0.080	11	47332594	missense variant	A/G	snv			3
rs397515947	MYBPC3	1.000	0.040	11	47339376	frameshift variant	G/-	delins			2
rs730880140	MYBPC3	1.000	0.080	11	47333297	missense variant	T/C	snv		7.0E-06	2
rs397515939	MYBPC3			11	47339758	missense variant	G/A;C	snv	8.0E-06		1
rs876657704	MYBPC3			11	47337489	frameshift variant	C/-	del			1