DisGeNET - a database of gene-disease associations

List of associated variants

Autosomal Recessive Emery-Dreifuss Muscular Dystrophy, C1450051

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
rs11575937	LMNA	0.653	0.480	1	156136985	missense variant	G/A;T	snv			29
rs199474724	LMNA	0.851	0.120	1	156134839	missense variant	G/A	snv			4