Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913377
rs121913377
0.020 GeneticVariation BEFREE BRAF V600E mutation in Juvenile Xanthogranuloma family neoplasms of the central nervous system (CNS-JXG): a revised diagnostic algorithm to include pediatric Erdheim-Chester disease. 31685033

2019

dbSNP: rs121913377
rs121913377
0.020 GeneticVariation BEFREE It may be more appropriate to classify intracranial/cranial JXG in the same group as Langerhans cell histiocytosis and Erdheim-Chester disease, which also have a BRAF V600E mutation. 28504206

2017