DisGeNET - a database of gene-disease associations

List of associated variants

CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7, C1860752

Source: ALL

Results per page

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
rs104894724	TNNI3	0.790	0.120	19	55154146	missense variant	G/A;C	snv	4.0E-06		8
rs397516354	TNNI3	0.790	0.120	19	55154094	missense variant	C/A;G;T	snv	4.0E-05		8
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
rs397516347	TNNI3	0.851	0.120	19	55154157	missense variant	C/T	snv		4.2E-05	5
rs397516357	TNNI3	0.851	0.120	19	55151910	missense variant	C/T	snv		7.0E-06	5
rs104894727	TNNI3	0.882	0.080	19	55151881	missense variant	C/A;T	snv	4.0E-06		4
rs368861241	TNNI3	0.851	0.120	19	55154095	missense variant	G/A	snv	4.0E-05	7.0E-06	4
rs104894725	TNNI3	0.882	0.080	19	55151851	missense variant	T/C;G	snv			3
rs267607127	TNNI3	0.882	0.120	19	55151860	missense variant	C/T	snv			3
rs267607128	TNNI3	0.882	0.040	19	55157097	missense variant	G/A	snv			3
rs397516353	TNNI3	0.882	0.080	19	55154109	missense variant	G/A	snv			3
rs104894728	TNNI3	0.925	0.040	19	55151898	missense variant	T/C	snv			2
rs727504242	TNNI3	0.925	0.080	19	55154082	missense variant	G/A	snv	8.0E-06	7.0E-06	2
rs727504275	TNNI3	0.925	0.040	19	55151856	missense variant	C/A;T	snv	4.0E-06		2