DisGeNET - a database of gene-disease associations

List of shared variants

Cardiomyopathy, Familial Hypertrophic, 2, C1861864

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
rs45586240	TNNT2	0.827	0.080	1	201361989	missense variant	G/A;T	snv	4.0E-06		7
rs74315379	TNNT2	0.827	0.080	1	201364336	missense variant	G/A;T	snv	1.2E-04		6
rs727503512	TNNT2	0.851	0.080	1	201363349	missense variant	G/A;C;T	snv	4.0E-06		5
rs74315380	TNNT2	0.851	0.080	1	201364366	missense variant	G/A;C	snv			5
rs397516471	TNNT2	0.882	0.080	1	201363348	missense variant	C/T	snv			4
rs45578238	TNNT2	0.882	0.080	1	201361971	inframe deletion	CTT/-	delins			4