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
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
rs397516373	TPM1	0.925	0.080	15	63059663	missense variant	G/A	snv			4
rs104894503	TPM1	0.776	0.160	15	63060899	missense variant	G/A	snv	1.6E-05	2.8E-05	3
rs199476316	TPM1	0.925	0.080	15	63062219	missense variant	C/T	snv	4.0E-06	7.0E-06	2
rs104894502	TPM1	0.807	0.120	15	63060915	missense variant	A/G;T	snv			1
rs1555408679	TPM1	1.000	0.080	15	63059648	missense variant	A/G	snv			1
rs199476321	TPM1	0.882	0.080	15	63064133	missense variant	T/C	snv	4.0E-06	1.4E-05	1
rs397516456	TNNT2	0.827	0.080	1	201365298	missense variant	G/A	snv	4.0E-06	1.4E-05	5
rs727504247	TNNT2	0.827	0.080	1	201359217	stop gained	C/A;T	snv	4.1E-06	7.0E-06	5
rs727504245	TNNT2	0.851	0.080	1	201365261	missense variant	G/A	snv	1.6E-05	2.1E-05	4
rs727504246	TNNT2	0.827	0.080	1	201363330	missense variant	G/A	snv			4
rs121964857	TNNT2	0.851	0.080	1	201359245	missense variant	G/A	snv	3.6E-04	4.3E-04	3
rs121964858	TNNT2	0.807	0.120	1	201365244	missense variant	A/C;G;T	snv			2
rs727504331	TNNT2	0.925	0.080	1	201365242	missense variant	A/C	snv	8.0E-06		2
rs397516482	TNNT2	1.000	0.080	1	201361286	missense variant	T/A	snv		7.0E-06	1
rs730881115	TNNT2	1.000	0.080	1	201364336	frameshift variant	G/-	delins		9.1E-05	1
rs397516354	TNNI3	0.790	0.120	19	55154094	missense variant	C/A;G;T	snv	4.0E-05		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
rs104894724	TNNI3	0.790	0.120	19	55154146	missense variant	G/A;C	snv	4.0E-06		4
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
rs368861241	TNNI3	0.851	0.120	19	55154095	missense variant	G/A	snv	4.0E-05	7.0E-06	3
rs397516347	TNNI3	0.851	0.120	19	55154157	missense variant	C/T	snv		4.2E-05	3