rs121913227, BRAF

N. diseases: 31
Disease: Melanocytic nevus ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Melanocytic nevus
CUI: C0027962
Disease: Melanocytic nevus
0.020 GeneticVariation BEFREE The second patient had stage III BRAF V600R mutant melanoma that was treated with pembrolizumab and dabrafenib, and also developed a regressed melanocytic nevus. 29152725 2019
Melanocytic nevus
CUI: C0027962
Disease: Melanocytic nevus
0.020 GeneticVariation BEFREE The BRAF V600E (c.1799T>A or c.1799_1800delTGinsA) and BRAF V600K mutations were detected in 85% (n = 34/40) of naevi. 28714107 2018