DisGeNET - a database of gene-disease associations

List of shared variants

Hypertrophic obstructive cardiomyopathy, C4551472

Disease: Cardiomyopathy, Dilated

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
rs121913627	MYH7	0.851	0.080	14	23427657	missense variant	C/A;G;T	snv	4.0E-06		8
rs121913630	MYH7	0.851	0.080	14	23425814	missense variant	G/A;C	snv	1.2E-05		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
rs199476314	TPM1	0.882	0.040	15	63060930	missense variant	T/G	snv			4
rs199476320	TPM1	0.925	0.040	15	63064121	missense variant	C/G;T	snv			3