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
rs397516351	TNNI3	0.925	0.080	19	55154045	inframe deletion	TTC/-	delins			2
rs397516040	MYBPC3	0.925	0.080	11	47332117	inframe deletion	TGG/-	delins			2
rs727504265	MYBPC3	0.925	0.080	11	47335166	frameshift variant	TG/-	delins		7.0E-06	3
rs397516155	MYH7	0.882	0.080	14	23424907	inframe deletion	TCT/-	delins			3
rs727503197	MYBPC3	0.925	0.080	11	47342080	frameshift variant	TC/-	delins			2
rs730880674	MYBPC3	0.882	0.080	11	47332895	inframe deletion	TAG/-	delins		7.0E-06	3
rs143139258	MYL2	0.882	0.080	12	110913097	missense variant	T/G	snv	2.0E-04	2.9E-04	4
rs397516057	MYBPC3	0.925	0.080	11	47349924	splice acceptor variant	T/G	snv			2
rs397516070	MYBPC3	0.882	0.080	11	47348486	missense variant	T/G	snv			2
rs727504273	MYH7	0.925	0.080	14	23431781	missense variant	T/G	snv		7.0E-06	1
rs869025469	MYBPC3	1.000	0.080	11	47332975	splice acceptor variant	T/G	snv	8.4E-06		1
rs104894725	TNNI3	0.882	0.080	19	55151851	missense variant	T/C;G	snv			1
rs267606908	MYH7	0.763	0.160	14	23424112	missense variant	T/C	snv	4.0E-06	7.0E-06	9
rs397515937	MYBPC3	0.851	0.080	11	47339792	splice acceptor variant	T/C	snv			4
rs267606977	PRKAG2	0.851	0.120	7	151560613	missense variant	T/C	snv			3
rs376395543	MYBPC3	0.882	0.080	11	47351507	splice acceptor variant	T/C	snv	2.7E-05	2.1E-05	3
rs397516082	MYBPC3	0.882	0.080	11	47346372	splice acceptor variant	T/C	snv	5.1E-06		3
rs727504238	MYH7	0.882	0.080	14	23427746	missense variant	T/C	snv	1.6E-05	2.1E-05	3
rs727504239	MYH7	0.882	0.080	14	23427242	missense variant	T/C	snv	4.0E-06	7.0E-06	3
rs727504310	MYH7	0.882	0.080	14	23424909	missense variant	T/C	snv			3
rs104893748	MYL3	0.925	0.080	3	46859511	missense variant	T/C	snv			2
rs1565629792	MYBPC3	0.925	0.080	11	47347481	splice acceptor variant	T/C	snv			2
rs397515891	MYBPC3	0.925	0.080	11	47343264	splice acceptor variant	T/C	snv			2
rs397516408	MYL2	0.925	0.080	12	110919117	missense variant	T/C	snv			2
rs727504236	MYH7	0.882	0.080	14	23428642	missense variant	T/C	snv			2