Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137853081
rs137853081
STK11
CUI: C0025202
Disease: melanoma
melanoma 		C 0.800 CausalMutation CLINVAR

dbSNP: rs137853080
rs137853080
STK11
CUI: C0025202
Disease: melanoma
melanoma 		G 0.800 CausalMutation CLINVAR

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: rs121913315
rs121913315
STK11
CUI: C0025202
Disease: melanoma
melanoma 		T 0.800 CausalMutation CLINVAR

dbSNP: rs121913323
rs121913323
STK11
CUI: C0025202
Disease: melanoma
melanoma 		T 0.700 CausalMutation CLINVAR

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: rs1057519815
rs1057519815
RAF1
CUI: C0025202
Disease: melanoma
melanoma 		G 0.700 GeneticVariation CLINVAR C-RAF mutations confer resistance to RAF inhibitors. 23737487

2013
dbSNP: rs121909233
rs121909233
PTEN ; KLLN
CUI: C0025202
Disease: melanoma
melanoma 		A 0.800 CausalMutation CLINVAR

dbSNP: rs121909234
rs121909234
PTEN
CUI: C0025202
Disease: melanoma
melanoma 		A 0.800 CausalMutation CLINVAR

dbSNP: rs121909232
rs121909232
PTEN
CUI: C0025202
Disease: melanoma
melanoma 		A 0.700 CausalMutation CLINVAR

dbSNP: rs121913274
rs121913274
PIK3CA
CUI: C0025202
Disease: melanoma
melanoma 		G 0.700 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913274
rs121913274
PIK3CA
CUI: C0025202
Disease: melanoma
melanoma 		G 0.700 GeneticVariation CLINVAR Acquired resistance and clonal evolution in melanoma during BRAF inhibitor therapy. 24265155

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: rs1057519814
rs1057519814
PDGFRA
CUI: C0025202
Disease: melanoma
melanoma 		T 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: rs1057519813
rs1057519813
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: rs1057519812
rs1057519812
PDGFRA
CUI: C0025202
Disease: melanoma
melanoma 		C 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: rs1057519811
rs1057519811
PDGFRA
CUI: C0025202
Disease: melanoma
melanoma 		T 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: rs180177132
rs180177132
PALB2
CUI: C0025202
Disease: melanoma
melanoma 		T 0.700 CausalMutation CLINVAR

dbSNP: rs11554290
rs11554290
NRAS
CUI: C0025202
Disease: melanoma
melanoma 		A 0.800 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs11554290
rs11554290
NRAS
CUI: C0025202
Disease: melanoma
melanoma 		C 0.800 CausalMutation CLINVAR MEK162 for patients with advanced melanoma harbouring NRAS or Val600 BRAF mutations: a non-randomised, open-label phase 2 study. 23414587

2013
dbSNP: rs11554290
rs11554290
NRAS
CUI: C0025202
Disease: melanoma
melanoma 		C 0.800 CausalMutation CLINVAR First-in-human, phase I dose-escalation study of the safety, pharmacokinetics, and pharmacodynamics of RO5126766, a first-in-class dual MEK/RAF inhibitor in patients with solid tumors. 22761467

2012
dbSNP: rs11554290
rs11554290
NRAS
CUI: C0025202
Disease: melanoma
melanoma 		C 0.800 CausalMutation CLINVAR Inhibition of Wee1, AKT, and CDK4 underlies the efficacy of the HSP90 inhibitor XL888 in an in vivo model of NRAS-mutant melanoma. 23538902

2013
dbSNP: rs11554290
rs11554290
NRAS
CUI: C0025202
Disease: melanoma
melanoma 		G 0.800 CausalMutation CLINVAR Phase I pharmacokinetic and pharmacodynamic study of the oral, small-molecule mitogen-activated protein kinase kinase 1/2 inhibitor AZD6244 (ARRY-142886) in patients with advanced cancers. 18390968

2008
dbSNP: rs11554290
rs11554290
NRAS
CUI: C0025202
Disease: melanoma
melanoma 		C 0.800 CausalMutation CLINVAR N-ras mutations in human cutaneous melanoma from sun-exposed body sites. 2674680

1989
dbSNP: rs11554290
rs11554290
NRAS
CUI: C0025202
Disease: melanoma
melanoma 		C 0.800 CausalMutation CLINVAR Ras mutations in human melanoma: a marker of malignant progression. 8120410

1994