DisGeNET - a database of gene-disease associations

Source: CURATED

Variants associated to the Disease: melanoma ×

Variants associated to the Gene: GNAQ ×

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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
rs121913492	GNAQ	0.790	0.160	9	77794572	missense variant	T/A;C;G	snv			2
rs1057519853	GNAQ	0.851	0.080	9	77794572	missense variant	TG/AA	mnv			1