DisGeNET - a database of gene-disease associations

List of associated variants

Restrictive external ophthalmoplegia, C1865918

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
rs753611141	PMPCA	0.827	0.280	9	136418847	missense variant	G/A;T	snv	2.4E-05; 4.0E-06		14
rs768643552	PMPCA	0.851	0.240	9	136418630	missense variant	G/A;C	snv	4.0E-06		13