DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Depressed nasal bridge ×

Variants associated to the Gene: BRAF ×

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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
rs121913355	BRAF	0.641	0.520	7	140781602	missense variant	C/A;G;T	snv	4.0E-06		42
rs180177035	BRAF	0.752	0.280	7	140801502	missense variant	T/C	snv			35
rs121913375	BRAF	0.851	0.240	7	140753339	missense variant	G/A;C	snv			7