DisGeNET - a database of gene-disease associations

List of shared variants

Hypertrophic Cardiomyopathy, C0007194

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
rs28933979	TTR	0.587	0.600	18	31592974	missense variant	G/A;C	snv	1.0E-04		70
rs104894201	CRYAB	0.763	0.280	11	111908934	missense variant	T/C	snv			12
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
rs111033560	PLN ; CEP85L	0.807	0.040	6	118559037	stop gained	T/G	snv	1.6E-05		9
rs121912683	SLC25A4	0.851	0.200	4	185145020	missense variant	C/A	snv	4.0E-06	7.0E-06	9
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
rs121964856	TNNT2	0.807	0.120	1	201365297	missense variant	C/A;T	snv			8
rs35049558	MYL2	0.851	0.040	12	110914287	frameshift variant	-/CT	ins	8.0E-06		8
rs397516354	TNNI3	0.790	0.120	19	55154094	missense variant	C/A;G;T	snv	4.0E-05		8
rs1057517686	ATAD3A	0.827	0.120	1	1529299	missense variant	C/T	snv			7
rs45586240	TNNT2	0.827	0.080	1	201361989	missense variant	G/A;T	snv	4.0E-06		7
rs199476301	TPM1	0.851	0.040	15	63042874	missense variant	G/A;T	snv	4.0E-06		6
rs104893823	TNNC1	0.882	0.040	3	52451285	missense variant	C/T	snv			5
rs121917776	VCL	0.882	0.040	10	74112086	missense variant	C/T	snv	9.9E-05	7.0E-06	5
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