Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TT 0.800 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308

2002
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		CT 0.800 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308

2002
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		CT 0.800 CausalMutation CLINVAR Determinants of BRAF mutations in primary melanomas. 14679157

2003
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TT 0.800 CausalMutation CLINVAR Determinants of BRAF mutations in primary melanomas. 14679157

2003
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		CT 0.800 CausalMutation CLINVAR RG7204 (PLX4032), a selective BRAFV600E inhibitor, displays potent antitumor activity in preclinical melanoma models. 20551065

2010
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TT 0.800 CausalMutation CLINVAR Incidence of the V600K mutation among melanoma patients with BRAF mutations, and potential therapeutic response to the specific BRAF inhibitor PLX4032. 20630094

2010
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		CT 0.800 CausalMutation CLINVAR Inhibition of mutated, activated BRAF in metastatic melanoma. 20818844

2010
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TT 0.800 CausalMutation CLINVAR Inhibition of mutated, activated BRAF in metastatic melanoma. 20818844

2010
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		CT 0.800 CausalMutation CLINVAR Improved survival with vemurafenib in melanoma with BRAF V600E mutation. 21639808

2011
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TT 0.800 CausalMutation CLINVAR Improved survival with vemurafenib in melanoma with BRAF V600E mutation. 21639808

2011
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		CT 0.800 CausalMutation CLINVAR Phase II, open-label, randomized trial of the MEK1/2 inhibitor selumetinib as monotherapy versus temozolomide in patients with advanced melanoma. 22048237

2012
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TT 0.800 CausalMutation CLINVAR Phase II, open-label, randomized trial of the MEK1/2 inhibitor selumetinib as monotherapy versus temozolomide in patients with advanced melanoma. 22048237

2012
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		CT 0.800 CausalMutation CLINVAR Survival in BRAF V600-mutant advanced melanoma treated with vemurafenib. 22356324

2012
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TT 0.800 CausalMutation CLINVAR Survival in BRAF V600-mutant advanced melanoma treated with vemurafenib. 22356324

2012
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TT 0.800 CausalMutation CLINVAR Routine multiplex mutational profiling of melanomas enables enrollment in genotype-driven therapeutic trials. 22536370

2012
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TT 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: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		CT 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: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TT 0.800 CausalMutation CLINVAR Improved survival with MEK inhibition in BRAF-mutated melanoma. 22663011

2012
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		CT 0.800 CausalMutation CLINVAR Improved survival with MEK inhibition in BRAF-mutated melanoma. 22663011

2012
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TT 0.800 CausalMutation CLINVAR Dabrafenib in BRAF-mutated metastatic melanoma: a multicentre, open-label, phase 3 randomised controlled trial. 22735384

2012
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		CT 0.800 CausalMutation CLINVAR Dabrafenib in BRAF-mutated metastatic melanoma: a multicentre, open-label, phase 3 randomised controlled trial. 22735384

2012
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		CT 0.800 CausalMutation CLINVAR Activity of the oral MEK inhibitor trametinib in patients with advanced melanoma: a phase 1 dose-escalation trial. 22805292

2012
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TT 0.800 CausalMutation CLINVAR Activity of the oral MEK inhibitor trametinib in patients with advanced melanoma: a phase 1 dose-escalation trial. 22805292

2012
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TT 0.800 CausalMutation CLINVAR Clinical responses to selumetinib (AZD6244; ARRY-142886)-based combination therapy stratified by gene mutations in patients with metastatic melanoma. 22972589

2013
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		CT 0.800 CausalMutation CLINVAR Clinical responses to selumetinib (AZD6244; ARRY-142886)-based combination therapy stratified by gene mutations in patients with metastatic melanoma. 22972589

2013