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
rs727504247	TNNT2	0.827	0.080	1	201359217	stop gained	C/A;T	snv	4.1E-06	7.0E-06	5
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
rs727503246	MIR208B ; MYH7	0.882	0.080	14	23418313	missense variant	C/T	snv		7.0E-06	4
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
rs148808089	MYH7	0.882	0.080	14	23429038	missense variant	G/A	snv	2.0E-05	1.4E-05	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
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