DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder) ×

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
rs121909374	MYBPC3	0.790	0.120	11	47342578	stop gained	C/A;G	snv	1.3E-05		6
rs375882485	MYBPC3	0.827	0.080	11	47342698	missense variant	G/A	snv	4.0E-05	9.8E-05	4
rs397515905	MYBPC3	0.851	0.080	11	47342719	missense variant	G/A;C;T	snv	4.0E-06; 8.0E-06		4
rs397515963	MYBPC3	0.851	0.080	11	47337729	frameshift variant	-/C	delins		2.1E-05	4
rs397515992	MYBPC3	0.882	0.080	11	47335042	stop gained	G/A	snv			3
rs397515970	MYBPC3	0.925	0.080	11	47337468	frameshift variant	-/A	delins			2
rs190228518	MYBPC3	1.000	0.080	11	47343070	stop gained	G/A;T	snv	4.9E-05		1
rs730880649	MYBPC3	1.000	0.080	11	47341196	frameshift variant	-/T	delins			1
rs863225271	MYBPC3	1.000	0.080	11	47342928	frameshift variant	A/-	del			1
rs863225272	MYBPC3	1.000	0.080	11	47332173	frameshift variant	AG/-	delins			1