DisGeNET - a database of gene-disease associations

List of associated variants

OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT, C1833809

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
rs80356524	OPA3	0.882	0.200	19	45553777	missense variant	C/T	snv			3
rs80356525	OPA3	0.882	0.200	19	45553741	stop gained	G/A;C	snv			3
rs80356523	OPA3	0.925	0.200	19	45553912	splice acceptor variant	C/G	snv			2
rs886037828	OPA3	1.000	0.120	19	45553819	missense variant	G/C	snv			1