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
rs727504331	TNNT2	0.925	0.080	1	201365242	missense variant	A/C	snv	8.0E-06		2
rs121964858	TNNT2	0.807	0.120	1	201365244	missense variant	A/C;G;T	snv			2
rs727504245	TNNT2	0.851	0.080	1	201365261	missense variant	G/A	snv	1.6E-05	2.1E-05	4
rs397516456	TNNT2	0.827	0.080	1	201365298	missense variant	G/A	snv	4.0E-06	1.4E-05	5
rs267607490	DES	0.925	0.160	2	219425734	missense variant	C/T	snv			4
rs397516248	MYH7 ; MHRT	0.851	0.200	14	23415153	missense variant	C/T	snv			5
rs727504385	MHRT ; MYH7	1.000	0.080	14	23415210	missense variant	T/C	snv			1
rs193922390	MHRT ; MYH7	0.882	0.080	14	23415651	missense variant	C/G;T	snv	4.0E-06; 2.0E-05		3
rs121913650	MHRT ; MYH7	0.925	0.080	14	23415652	missense variant	G/A	snv		7.0E-06	2
rs1555336467	MHRT ; MYH7	1.000	0.080	14	23416211	inframe deletion	CTC/-	delins			1
rs397516220	MYH7 ; MHRT	0.925	0.160	14	23416988	splice acceptor variant	CTC/-	delins			2
rs121913647	MHRT ; MYH7	0.925	0.160	14	23417173	missense variant	C/A;G;T	snv	1.6E-05		3
rs45544633	MHRT ; MYH7	1.000	0.080	14	23417174	missense variant	G/A	snv			3
rs730880800	MYH7 ; MHRT ; MIR208B	1.000	0.080	14	23417556	missense variant	G/A	snv			1
rs397516207	MHRT ; MIR208B ; MYH7	0.925	0.080	14	23417597	missense variant	C/T	snv			2
rs397516202	MYH7 ; MIR208B	0.882	0.080	14	23418244	missense variant	C/A;T	snv		7.0E-06	3
rs397516201	MYH7 ; MIR208B	0.882	0.080	14	23418249	missense variant	G/A	snv	4.0E-06	1.4E-05	2
rs727503246	MIR208B ; MYH7	0.882	0.080	14	23418313	missense variant	C/T	snv		7.0E-06	4
rs730880781	MIR208B ; MYH7	1.000	0.080	14	23419949	missense variant	C/G;T	snv	4.0E-06		1
rs587782962	MYH7	0.925	0.080	14	23422267	missense variant	C/T	snv	6.4E-05	7.7E-05	2
rs397516178	MYH7	1.000	0.080	14	23422291	missense variant	C/A;G;T	snv	1.6E-05; 3.6E-05		1
rs45611033	MYH7	0.925	0.080	14	23422292	missense variant	G/A	snv	2.4E-05	2.8E-05	2
rs397516172	MYH7	0.925	0.080	14	23424036	inframe deletion	CTC/-	delins			2
rs397516171	MYH7	0.763	0.160	14	23424041	missense variant	C/G;T	snv			9
rs730880161	MYH7	1.000	0.080	14	23424044	missense variant	C/T	snv			1