DisGeNET - a database of gene-disease associations

List of associated variants

Cardiomyopathy, Hypertrophic, Familial, C0949658

Source: ALL

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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
rs121434467	ND1 ; ND2 ; COX1 ; TRNI	0.925	0.200	MT	4295	non coding transcript exon variant	A/G	snv			2
rs121434470	COX1 ; ND1 ; TRNI ; ND2	1.000	0.080	MT	4300	non coding transcript exon variant	A/G	snv			1
rs121434475	ND4 ; TRNG ; COX3 ; ND3 ; ND4L	1.000	0.080	MT	9997	non coding transcript exon variant	T/C	snv			1
rs104894845	GLA ; RPL36A-HNRNPH2	0.807	0.160	X	101401752	missense variant	C/G;T	snv	5.5E-04		8
rs104894828	RPL36A-HNRNPH2 ; GLA	0.882	0.160	X	101398467	missense variant	C/A;T	snv			3
rs193922649	LAMP2	0.925	0.160	X	120449063	frameshift variant	T/-	del			2
rs727504953	LAMP2	0.925	0.160	X	120455477	missense variant	C/G;T	snv	5.5E-06; 4.4E-05		2
rs869025431	FHL1	0.925	0.160	X	136209946	missense variant	G/A;C	snv		9.6E-06	2
rs587782951	JPH2	0.807	0.080	20	44160305	missense variant	G/T	snv			6
rs750083965	DLGAP4-AS1 ; MYL9	0.882	0.160	20	36548073	missense variant	G/A	snv	4.0E-06		3
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
rs104894729	TNNI3	0.827	0.080	19	55151892	missense variant	C/A;G;T	snv			5
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
rs727503503	TNNI3	0.827	0.120	19	55154070	missense variant	C/T	snv			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
rs397516353	TNNI3	0.882	0.080	19	55154109	missense variant	G/A	snv			3
rs397516351	TNNI3	0.925	0.080	19	55154045	inframe deletion	TTC/-	delins			2
rs727504242	TNNI3	0.925	0.080	19	55154082	missense variant	G/A	snv	8.0E-06	7.0E-06	2