Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
T 0.800 CausalMutation CLINVAR We report prolonged antitumor activity in the first patient with V600E BRAF-mutated GIST who was treated with a BRAF inhibitor. 23470635

2013

dbSNP: rs113488022
rs113488022
T 0.800 CausalMutation CLINVAR Dabrafenib in patients with melanoma, untreated brain metastases, and other solid tumours: a phase 1 dose-escalation trial. 22608338

2012

dbSNP: rs113488022
rs113488022
T 0.800 CausalMutation CLINVAR Improved survival with vemurafenib in melanoma with BRAF V600E mutation. 21639808

2011

dbSNP: rs113488022
rs113488022
T 0.800 CausalMutation CLINVAR Inhibition of mutated, activated BRAF in metastatic melanoma. 20818844

2010

dbSNP: rs113488022
rs113488022
T 0.800 CausalMutation CLINVAR BRAF mutations (V600E) were detected in 2 of 28 wild-type GISTs (7%), but in none of the 41 KIT/PDGFRA mutants.No KRAS mutation was detected. 19561230

2009

dbSNP: rs113488022
rs113488022
T 0.800 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308

2002