rs121913227, BRAF

N. diseases: 31
Disease: Cutaneous Melanoma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.020 GeneticVariation BEFREE Preponderance of the oncogenic V599E and V599K mutations in B-raf kinase domain is enhanced in melanoma cutaneous/subcutaneous metastases. 15935100 2005
Cutaneous Melanoma
CUI: C0151779
Disease: Cutaneous Melanoma
0.020 GeneticVariation BEFREE In addition, a double mutation resulting in V599K substitution was detected in two suspect ocular metastases of cutaneous melanoma. 14522889 2003