DisGeNET - a database of gene-disease associations

Variant: rs1057519720 ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1057519720

BRAF

CUI:	C4744444
Disease:	Metastatic Lung Adenocarcinoma

Metastatic Lung Adenocarcinoma

0.010

GeneticVariation

BEFREE

Here, we report the case of a patient with metastatic lung adenocarcinoma with BRAF G469L mutation refractory to vemurafenib.

2013