DisGeNET - a database of gene-disease associations

List of shared variants

Cardiomyopathy, Hypertrophic, Familial, C0949658

Disease: Cardiomyopathies

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
rs699	AGT	0.501	0.800	1	230710048	missense variant	A/G	snv	0.55	0.58	134
rs1267969615	ACE	0.532	0.760	17	63490960	missense variant	T/C	snv	4.0E-06		100
rs4762	AGT	0.637	0.440	1	230710231	missense variant	G/A	snv	0.12	0.11	35
rs121908987	PRKAG2	0.742	0.200	7	151576412	missense variant	C/A;G;T	snv	4.0E-06		12
rs104894369	MYL2	0.807	0.080	12	110914287	missense variant	C/A;T	snv			10
rs121913628	MYH7	0.763	0.160	14	23424059	missense variant	C/G;T	snv			10
rs3218713	MYH7	0.763	0.160	14	23431468	missense variant	C/A;T	snv			10
rs193922680	ACTC1 ; LOC101928174	0.790	0.080	15	34793398	missense variant	C/T	snv	4.0E-06	7.0E-06	9
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
rs267607490	DES	0.925	0.160	2	219425734	missense variant	C/T	snv			6
rs199474703	MYL3	0.851	0.120	3	46860702	missense variant	C/T	snv	8.0E-06		5
rs397515905	MYBPC3	0.851	0.080	11	47342719	missense variant	G/A;C;T	snv	4.0E-06; 8.0E-06		5
rs397516059	MYBPC3	0.851	0.080	11	47349876	frameshift variant	-/A	delins	8.2E-06		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
rs727503166	MYBPC3	0.851	0.080	11	47332110	frameshift variant	T/-	del			5
rs727503204	MYBPC3	0.882	0.080	11	47343020	splice donor variant	C/G;T	snv			5
rs104894727	TNNI3	0.882	0.080	19	55151881	missense variant	C/A;T	snv	4.0E-06		4
rs148808089	MYH7	0.882	0.080	14	23429038	missense variant	G/A	snv	2.0E-05	1.4E-05	4
rs397516029	MYBPC3	0.882	0.080	11	47332569	frameshift variant	G/-;GG	delins	4.0E-06		4
rs397516088	MYH7	0.882	0.080	14	23429850	missense variant	C/G;T	snv			4
rs397516165	MYH7	0.925	0.080	14	23424118	missense variant	C/G;T	snv			4
rs397516260	MYH7	0.882	0.080	14	23431789	missense variant	C/A;T	snv	1.6E-05		4
rs397516269	MYH7	0.882	0.080	14	23431426	missense variant	A/G	snv	4.0E-06		4