DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Arrhythmogenic Right Ventricular Dysplasia ×

Variants associated to the Gene: LMNA ×

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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
rs386134243	LMNA	0.708	0.360	1	156135967	missense variant	C/A;T	snv	4.0E-06		16
rs397517906	LMNA	0.925	0.080	1	156134890	missense variant	C/T	snv	8.0E-06		3