Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913377
rs121913377
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TT 0.800 GeneticVariation CLINVAR Phase II trial (BREAK-2) of the BRAF inhibitor dabrafenib (GSK2118436) in patients with metastatic melanoma. 23918947

2013
dbSNP: rs121913377
rs121913377
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TT 0.800 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913377
rs121913377
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TT 0.800 GeneticVariation CLINVAR Overwhelming response to Dabrafenib in a patient with double BRAF mutation (V600E; V600M) metastatic malignant melanoma. 23031422

2012
dbSNP: rs121913377
rs121913377
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TT 0.800 GeneticVariation CLINVAR Vemurafenib produced improved rates of overall and progression-free survival in patients with previously untreated melanoma with the BRAF V600E mutation. 21639808

2011
dbSNP: rs121913377
rs121913377
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TT 0.800 GeneticVariation CLINVAR Safety and efficacy of vemurafenib in BRAF(V600E) and BRAF(V600K) mutation-positive melanoma (BRIM-3): extended follow-up of a phase 3, randomised, open-label study. 24508103

2014
dbSNP: rs121913351
rs121913351
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		G 0.800 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913351
rs121913351
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		T 0.800 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913351
rs121913351
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		T 0.800 GeneticVariation CLINVAR Frequency and spectrum of BRAF mutations in a retrospective, single-institution study of 1112 cases of melanoma. 23273605

2013
dbSNP: rs121913315
rs121913315
STK11
CUI: C0025202
Disease: melanoma
melanoma 		T 0.800 GeneticVariation CLINVAR Somatic mutation of the Peutz-Jeghers syndrome gene, LKB1/STK11, in malignant melanoma. 10208439

1999
dbSNP: rs113488022
rs113488022
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		G 0.800 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs1057519834
rs1057519834
NRAS
CUI: C0025202
Disease: melanoma
melanoma 		CT 0.800 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913254
rs121913254
NRAS
CUI: C0025202
Disease: melanoma
melanoma 		A 0.780 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913254
rs121913254
NRAS
CUI: C0025202
Disease: melanoma
melanoma 		A 0.780 GeneticVariation CLINVAR We generated mutant BRAF(V600E) melanoma cells that exhibit resistance to PLX4720, the tool compound for vemurafenib, that co-expressed mutant (Q61K) NRAS. 23076151

2012
dbSNP: rs104894340
rs104894340
CDK4
CUI: C0025202
Disease: melanoma
melanoma 		T 0.740 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913364
rs121913364
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		C 0.720 GeneticVariation CLINVAR Improved survival with vemurafenib in melanoma with BRAF V600E mutation. 21639808

2011
dbSNP: rs121913364
rs121913364
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		C 0.720 GeneticVariation 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: rs121913364
rs121913364
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		C 0.720 GeneticVariation CLINVAR Mutations of the BRAF gene in human cancer. 12068308

2002
dbSNP: rs121913364
rs121913364
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		C 0.720 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913364
rs121913364
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		C 0.720 GeneticVariation CLINVAR Improved survival with MEK inhibition in BRAF-mutated melanoma. 22663011

2012
dbSNP: rs121913364
rs121913364
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		C 0.720 GeneticVariation CLINVAR Determinants of BRAF mutations in primary melanomas. 14679157

2003
dbSNP: rs121913364
rs121913364
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		C 0.720 GeneticVariation CLINVAR Clinical responses to selumetinib (AZD6244; ARRY-142886)-based combination therapy stratified by gene mutations in patients with metastatic melanoma. 22972589

2013
dbSNP: rs121913338
rs121913338
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		G 0.720 GeneticVariation CLINVAR Acute effects of some volatile nitrites on motor performance and lethality in mice. 2872605

1986
dbSNP: rs121913378
rs121913378
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		G 0.710 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913378
rs121913378
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		A 0.710 GeneticVariation CLINVAR Mutational analysis of the BRAF gene in transitional cell carcinoma of the bladder. 19404918

2009
dbSNP: rs121913378
rs121913378
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		A 0.710 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014