DisGeNET - a database of gene-disease associations

List of shared variants

Cardiomyopathy, Dilated, C0007193

Disease: Hypertrophic Cardiomyopathy

Source: CLINVAR ×

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
rs111033560	PLN ; CEP85L	0.807	0.040	6	118559037	stop gained	T/G	snv	1.6E-05		7
rs606231324	MYH7	0.851	0.080	14	23428505	missense variant	C/G;T	snv			5
rs727503204	MYBPC3	0.882	0.080	11	47343020	splice donor variant	C/G;T	snv			5
rs74315379	TNNT2	0.827	0.080	1	201364336	missense variant	G/A;T	snv	1.2E-04		5
rs727502886	ACTN2	0.925	0.040	1	236719007	missense variant	G/A	snv			3
rs397515947	MYBPC3	1.000	0.040	11	47339376	frameshift variant	G/-	delins			2