DisGeNET - a database of gene-disease associations

List of shared variants

Hypertrophic Cardiomyopathy, C0007194

Disease: Left ventricular noncompaction

Source: CLINVAR ×

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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
rs1566535410	MYH7	0.851	0.080	14	23429297	missense variant	T/C	snv			5
rs606231324	MYH7	0.851	0.080	14	23428505	missense variant	C/G;T	snv			5
rs727503166	MYBPC3	0.851	0.080	11	47332110	frameshift variant	T/-	del			5
rs573916965	MYBPC3	0.827	0.080	11	47346297	stop gained	C/A;T	snv	2.5E-04		4
rs727503269	MYH7	0.882	0.040	14	23429329	missense variant	T/C	snv			3
rs730880336	MYBPC3	0.925	0.040	11	47346254	frameshift variant	-/TGCCG	delins	4.0E-06		3
rs730880850	MYH7	0.882	0.040	14	23431584	splice donor variant	C/T	snv	4.0E-06		3