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
rs397516042	MYBPC3	0.827	0.120	11	47332075	stop gained	G/A	snv	8.1E-06	7.0E-06	5
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
rs1060499604	MYBPC3	0.851	0.080	11	47339323	splice donor variant	C/A;T	snv	4.0E-06		4
rs200411226	MYBPC3	0.851	0.080	11	47342718	missense variant	C/T	snv	2.4E-05	4.2E-05	4
rs373746463	MYBPC3	0.851	0.080	11	47333189	splice region variant	C/A;G;T	snv	1.8E-05; 4.4E-06		4
rs375882485	MYBPC3	0.827	0.080	11	47342698	missense variant	G/A	snv	4.0E-05	9.8E-05	4
rs387906397	MYBPC3	0.851	0.080	11	47333192	splice donor variant	A/C;G	snv			4
rs397515905	MYBPC3	0.851	0.080	11	47342719	missense variant	G/A;C;T	snv	4.0E-06; 8.0E-06		4
rs397515937	MYBPC3	0.851	0.080	11	47339792	splice acceptor variant	T/C	snv			4
rs397515963	MYBPC3	0.851	0.080	11	47337729	frameshift variant	-/C	delins		2.1E-05	4
rs397515990	MYBPC3	0.851	0.080	11	47335082	frameshift variant	AG/-	del		7.0E-06	4
rs397516029	MYBPC3	0.882	0.080	11	47332569	frameshift variant	G/-;GG	delins	4.0E-06		4
rs397516037	MYBPC3	0.851	0.120	11	47332189	stop gained	G/A	snv	8.0E-06		4
rs397516074	MYBPC3	0.827	0.120	11	47348424	missense variant	C/T	snv	1.7E-05	4.2E-05	4
rs397516083	MYBPC3	0.851	0.080	11	47346379	intron variant	C/T	snv		2.1E-05	4
rs573916965	MYBPC3	0.827	0.080	11	47346297	stop gained	C/A;T	snv	2.5E-04		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
rs112738974	MYBPC3	0.882	0.080	11	47338519	splice donor variant	C/A;G;T	snv			3
rs121909377	MYBPC3	0.882	0.080	11	47333238	stop gained	C/A;T	snv	4.8E-06; 1.9E-05		3
rs193922384	MYBPC3	0.882	0.080	11	47332126	inframe insertion	-/CAGACATAGATGCCCCCG	delins		2.8E-05	3
rs193922386	MYBPC3	0.882	0.080	11	47346365	stop gained	G/A;C;T	snv	4.9E-06		3
rs2856655	MYBPC3	0.851	0.080	11	47337534	missense variant	C/G;T	snv	2.0E-05		3