Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs993022333
rs993022333
KIT
CUI: C0025202
Disease: melanoma
melanoma 		T 0.700 CausalMutation CLINVAR V559A and N822I double KIT mutant melanoma with predictable response to imatinib? 21159146

2011
dbSNP: rs869312757
rs869312757
BAP1
CUI: C0025202
Disease: melanoma
melanoma 		A 0.700 CausalMutation CLINVAR

dbSNP: rs869025608
rs869025608
MAP2K1
CUI: C0025202
Disease: melanoma
melanoma 		C 0.700 GeneticVariation CLINVAR Phase II trial of MEK inhibitor selumetinib (AZD6244, ARRY-142886) in patients with BRAFV600E/K-mutated melanoma. 23444215

2013
dbSNP: rs869025608
rs869025608
MAP2K1
CUI: C0025202
Disease: melanoma
melanoma 		T 0.700 GeneticVariation CLINVAR Phase II trial of MEK inhibitor selumetinib (AZD6244, ARRY-142886) in patients with BRAFV600E/K-mutated melanoma. 23444215

2013
dbSNP: rs80358683
rs80358683
BRCA2
CUI: C0025202
Disease: melanoma
melanoma 		T 0.700 CausalMutation CLINVAR

dbSNP: rs794729219
rs794729219
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		G 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs776347334
rs776347334
ERBB4
CUI: C0025202
Disease: melanoma
melanoma 		T 0.700 GeneticVariation CLINVAR Analysis of the tyrosine kinome in melanoma reveals recurrent mutations in ERBB4. 19718025

2009
dbSNP: rs77064436
rs77064436
CTNNB1
CUI: C0025202
Disease: melanoma
melanoma 		C 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs763576329
rs763576329
PDGFRA
CUI: C0025202
Disease: melanoma
melanoma 		A 0.700 GeneticVariation CLINVAR Large-scale analysis of PDGFRA mutations in melanomas and evaluation of their sensitivity to tyrosine kinase inhibitors imatinib and crenolanib. 24132921

2013
dbSNP: rs727505017
rs727505017
RAF1
CUI: C0025202
Disease: melanoma
melanoma 		G 0.700 GeneticVariation CLINVAR C-RAF mutations confer resistance to RAF inhibitors. 23737487

2013
dbSNP: rs727504317
rs727504317
MAP2K1
CUI: C0025202
Disease: melanoma
melanoma 		A 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs587779826
rs587779826
ATM
CUI: C0025202
Disease: melanoma
melanoma 		C 0.700 GeneticVariation CLINVAR

dbSNP: rs55671017
rs55671017
ERBB4
CUI: C0025202
Disease: melanoma
melanoma 		A 0.700 GeneticVariation CLINVAR Analysis of the tyrosine kinome in melanoma reveals recurrent mutations in ERBB4. 19718025

2009
dbSNP: rs555607708
rs555607708
CHEK2
CUI: C0025202
Disease: melanoma
melanoma 		A 0.700 CausalMutation CLINVAR

dbSNP: rs535202189
rs535202189
ERBB4
CUI: C0025202
Disease: melanoma
melanoma 		T 0.700 GeneticVariation CLINVAR Analysis of the tyrosine kinome in melanoma reveals recurrent mutations in ERBB4. 19718025

2009
dbSNP: rs45580035
rs45580035
BRCA2
CUI: C0025202
Disease: melanoma
melanoma 		T 0.700 CausalMutation CLINVAR

dbSNP: rs397516896
rs397516896
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		T 0.700 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308

2002
dbSNP: rs397516896
rs397516896
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		G 0.700 CausalMutation CLINVAR Determinants of BRAF mutations in primary melanomas. 14679157

2003
dbSNP: rs397516896
rs397516896
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		T 0.700 CausalMutation CLINVAR Determinants of BRAF mutations in primary melanomas. 14679157

2003
dbSNP: rs397516896
rs397516896
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		G 0.700 CausalMutation CLINVAR Mutations of the BRAF gene in human cancer. 12068308

2002
dbSNP: rs397516792
rs397516792
MAP2K1
CUI: C0025202
Disease: melanoma
melanoma 		T 0.720 CausalMutation CLINVAR One such mutation, MEK1(P124L), was identified in a resistant metastatic focus that emerged in a melanoma patient treated with AZD6244. 19915144

2009
dbSNP: rs397516792
rs397516792
MAP2K1
CUI: C0025202
Disease: melanoma
melanoma 		T 0.720 CausalMutation CLINVAR Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma. 22197931

2011
dbSNP: rs397516792
rs397516792
MAP2K1
CUI: C0025202
Disease: melanoma
melanoma 		T 0.720 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs397516792
rs397516792
MAP2K1
CUI: C0025202
Disease: melanoma
melanoma 		T 0.720 CausalMutation CLINVAR COT drives resistance to RAF inhibition through MAP kinase pathway reactivation. 21107320

2010
dbSNP: rs397516790
rs397516790
MAP2K1
CUI: C0025202
Disease: melanoma
melanoma 		G 0.700 GeneticVariation CLINVAR Pharmacodynamic effects and mechanisms of resistance to vemurafenib in patients with metastatic melanoma. 23569304

2013