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
rs104894727	TNNI3	0.882	0.080	19	55151881	missense variant	C/A;T	snv	4.0E-06		4
rs104894729	TNNI3	0.827	0.080	19	55151892	missense variant	C/A;G;T	snv			4
rs1060499604	MYBPC3	0.851	0.080	11	47339323	splice donor variant	C/A;T	snv	4.0E-06		4
rs143139258	MYL2	0.882	0.080	12	110913097	missense variant	T/G	snv	2.0E-04	2.9E-04	4
rs148808089	MYH7	0.882	0.080	14	23429038	missense variant	G/A	snv	2.0E-05	1.4E-05	4
rs199474703	MYL3	0.851	0.120	3	46860702	missense variant	C/T	snv	8.0E-06		4
rs199476315	TPM1	0.827	0.080	15	63061723	missense variant	G/A	snv			4
rs199476317	TPM1	0.827	0.080	15	63062263	missense variant	G/A	snv			4
rs200411226	MYBPC3	0.851	0.080	11	47342718	missense variant	C/T	snv	2.4E-05	4.2E-05	4
rs267607490	DES	0.925	0.160	2	219425734	missense variant	C/T	snv			4
rs267607581	LMNA	0.925	0.080	1	156137651	splice region variant	C/G	snv			4
rs2754158	MYH7	0.882	0.080	14	23424876	missense variant	G/A;C;T	snv	1.2E-05		4
rs36211715	MYH7	0.851	0.080	14	23424839	missense variant	C/A;G;T	snv	4.0E-06		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
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
rs397516089	MYH7	0.827	0.080	14	23429807	missense variant	C/G;T	snv			4
rs397516165	MYH7	0.925	0.080	14	23424118	missense variant	C/G;T	snv			4
rs397516269	MYH7	0.882	0.080	14	23431426	missense variant	A/G	snv	4.0E-06		4
rs397516373	TPM1	0.925	0.080	15	63059663	missense variant	G/A	snv			4