DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Malignant Uterine Corpus Neoplasm ×

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
rs121913364	BRAF	0.641	0.520	7	140753334	missense variant	T/C;G	snv	4.0E-06		14
rs397507484	BRAF	0.752	0.480	7	140753333	missense variant	T/A;C;G	snv			10
rs121913365	BRAF	0.776	0.320	7	140753332	missense variant	T/A;G	snv			8