Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
0.050 GeneticVariation BEFREE Future studies with long-term follow-up are required to determine if pediatric BRAF V600E positive CNS-JXG neoplasms are a distinct entity in the L-group histiocytosis category or represent an expanded pediatric spectrum of ECD. 31685033

2019

dbSNP: rs121913377
rs121913377
0.050 GeneticVariation BEFREE Future studies with long-term follow-up are required to determine if pediatric BRAF V600E positive CNS-JXG neoplasms are a distinct entity in the L-group histiocytosis category or represent an expanded pediatric spectrum of ECD. 31685033

2019

dbSNP: rs113488022
rs113488022
0.050 GeneticVariation BEFREE The discovery of BRAF(V600E) mutations in approximately 50% of these patients provided the first molecular therapeutic target in histiocytosis. 26566875

2016

dbSNP: rs113488022
rs113488022
0.050 GeneticVariation BEFREE The coexistence of LCH and ECD in the same biopsy and the BRAF (V600E) mutation status in both histologic types support the recent re-classification of the histiocytic disorder into LCH, ECD, and "mixed histiocytosis", which reflects tumorigenesis for all three from a common progenitor cell. 26466952

2016

dbSNP: rs121913377
rs121913377
0.050 GeneticVariation BEFREE The discovery of BRAF(V600E) mutations in approximately 50% of these patients provided the first molecular therapeutic target in histiocytosis. 26566875

2016

dbSNP: rs121913377
rs121913377
0.050 GeneticVariation BEFREE The coexistence of LCH and ECD in the same biopsy and the BRAF (V600E) mutation status in both histologic types support the recent re-classification of the histiocytic disorder into LCH, ECD, and "mixed histiocytosis", which reflects tumorigenesis for all three from a common progenitor cell. 26466952

2016

dbSNP: rs113488022
rs113488022
0.050 GeneticVariation BEFREE Erdheim-Chester disease (ECD) is a rare histiocytosis with a high prevalence of BRAF V600E mutation (>50% of patients). 25003820

2014

dbSNP: rs121913377
rs121913377
0.050 GeneticVariation BEFREE Erdheim-Chester disease (ECD) is a rare histiocytosis with a high prevalence of BRAF V600E mutation (>50% of patients). 25003820

2014

dbSNP: rs113488022
rs113488022
0.050 GeneticVariation BEFREE Treatment with vemurafenib should be investigated in patients with malignant BRAF(V600E) histiocytosis. 22879539

2012

dbSNP: rs121913377
rs121913377
0.050 GeneticVariation BEFREE Treatment with vemurafenib should be investigated in patients with malignant BRAF(V600E) histiocytosis. 22879539

2012