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
rs193922680	ACTC1 ; LOC101928174	0.790	0.080	15	34793398	missense variant	C/T	snv	4.0E-06	7.0E-06	7
rs397516349	TNNI3	0.807	0.080	19	55154145	missense variant	C/T	snv	1.6E-05		6
rs727503504	TNNI3	0.807	0.080	19	55154071	missense variant	G/A;C	snv			6
rs267606910	MYH7	0.807	0.080	14	23431589	missense variant	C/T	snv	8.0E-06		5
rs36211723	MYBPC3	0.851	0.080	11	47338520	missense variant	C/G;T	snv	1.6E-05		5
rs397516059	MYBPC3	0.851	0.080	11	47349876	frameshift variant	-/A	delins	8.2E-06		5
rs397516456	TNNT2	0.827	0.080	1	201365298	missense variant	G/A	snv	4.0E-06	1.4E-05	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
rs727504247	TNNT2	0.827	0.080	1	201359217	stop gained	C/A;T	snv	4.1E-06	7.0E-06	5
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
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
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