DisGeNET - a database of gene-disease associations

List of associated variants

Cardiomyopathy, Hypertrophic, Familial, C0949658

Source: CLINVAR ×

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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
rs397516008	MYBPC3	0.925	0.080	11	47333297	frameshift variant	-/A	ins		7.0E-06	2
rs879254614	LDLR	0.925	0.120	19	11105555	frameshift variant	-/T	ins			1
rs727503166	MYBPC3	0.851	0.080	11	47332110	frameshift variant	T/-	del			5
rs397515990	MYBPC3	0.851	0.080	11	47335082	frameshift variant	AG/-	del		7.0E-06	4
rs727503172	MYBPC3	0.882	0.080	11	47333236	frameshift variant	C/-	del			4
rs397515934	MYBPC3	0.925	0.080	11	47341140	frameshift variant	A/-	del			3
rs1555121488	MYBPC3	0.925	0.080	11	47338681	splice acceptor variant	T/-	del			2
rs1565631430	MYBPC3	1.000	0.080	11	47350600	frameshift variant	ATGGGCTCTG/-	del			2
rs193922649	LAMP2	0.925	0.160	X	120449063	frameshift variant	T/-	del			2
rs876657705	MYBPC3	0.925	0.080	11	47335158	frameshift variant	A/-	del			2
rs1565628062	MYBPC3	1.000	0.080	11	47342865	frameshift variant	C/-	del			1
rs1565628486	MYBPC3	1.000	0.080	11	47343541	frameshift variant	C/-	del			1
rs1565631428	MYBPC3	1.000	0.080	11	47350598	frameshift variant	G/-	del			1
rs730880664	MYBPC3	1.000	0.080	11	47351294	frameshift variant	G/-	del			1
rs730880686	MYBPC3	1.000	0.080	11	47346269	frameshift variant	G/-	del			1
rs869025460	MYBPC3	1.000	0.080	11	47339375	frameshift variant	T/-	del			1
rs869025464	MYBPC3	1.000	0.080	11	47350077	frameshift variant	CA/-	del			1
rs397516059	MYBPC3	0.851	0.080	11	47349876	frameshift variant	-/A	delins	8.2E-06		5
rs397515963	MYBPC3	0.851	0.080	11	47337729	frameshift variant	-/C	delins		2.1E-05	4
rs397516029	MYBPC3	0.882	0.080	11	47332569	frameshift variant	G/-;GG	delins	4.0E-06		4
rs727503203	MYBPC3	0.882	0.080	11	47342929	frameshift variant	GG/-;GGG	delins			4
rs193922384	MYBPC3	0.882	0.080	11	47332126	inframe insertion	-/CAGACATAGATGCCCCCG	delins		2.8E-05	3
rs36212066	MYBPC3	0.882	0.080	11	47332275	intron variant	AGGGAAGCCATCCAGGCTGAGAGGG/-	delins	4.0E-03	8.9E-04	3
rs397515889	MYBPC3	0.925	0.080	11	47343547	frameshift variant	G/-;GG	delins			3
rs397515926	MYBPC3	0.882	0.080	11	47341235	frameshift variant	T/-	delins	4.9E-06		3