Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		T 0.800 CausalMutation CLINVAR Primary cross-resistance to BRAFV600E-, MEK1/2- and PI3K/mTOR-specific inhibitors in BRAF-mutant melanoma cells counteracted by dual pathway blockade. 26678033

2016
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TT 0.800 CausalMutation CLINVAR Database of genomic biomarkers for cancer drugs and clinical targetability in solid tumors. 25656898

2015
dbSNP: rs113488022
rs113488022
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		T 0.800 CausalMutation CLINVAR A patient with V600E BRAF-mutant melanoma and another with platinum-refractory epithelial ovarian cancer exhibiting PTEN loss and PIK3CA amplification demonstrated partial response by RECIST and GCIG-CA125 criteria, respectively. 25370471

2015
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 		AT 0.800 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

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: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		TT 0.800 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913227
rs121913227
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		CT 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 		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 		G 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 Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs113488022
rs113488022
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		T 0.800 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
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: rs1057519695
rs1057519695
NRAS
CUI: C0025202
Disease: melanoma
melanoma 		CA 0.800 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913254
rs121913254
NRAS
CUI: C0025202
Disease: melanoma
melanoma 		C 0.780 CausalMutation 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: rs121913513
rs121913513
KIT
CUI: C0025202
Disease: melanoma
melanoma 		C 0.760 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
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: 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: rs121913366
rs121913366
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		C 0.720 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913366
rs121913366
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		T 0.720 CausalMutation 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 Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014
dbSNP: rs121913338
rs121913338
BRAF
CUI: C0025202
Disease: melanoma
melanoma 		C 0.720 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014