Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
BRAF
0.020 GeneticVariation BEFREE The present case is the first pediatric case showing BRAF V600E-mutated intracerebral histiocytic sarcoma. 28748542

2017
dbSNP: rs121913377
rs121913377
BRAF
0.020 GeneticVariation BEFREE The present case is the first pediatric case showing BRAF V600E-mutated intracerebral histiocytic sarcoma. 28748542

2017
dbSNP: rs113488022
rs113488022
BRAF
0.020 GeneticVariation BEFREE BRAF(V600E) was not limited to LCH and was detected more frequently in histiocytic sarcoma. 24720374

2014
dbSNP: rs121913377
rs121913377
BRAF
0.020 GeneticVariation BEFREE BRAF(V600E) was not limited to LCH and was detected more frequently in histiocytic sarcoma. 24720374

2014
dbSNP: rs121913338
rs121913338
BRAF
0.010 GeneticVariation BEFREE Next-generation sequencing and whole-exome sequencing (WES) studies detected 35 common mutations, as well as mutations unique to B-ALL (16) and HS (15), including BRAF D594G. 31172191

2019
dbSNP: rs121913496
rs121913496
HRAS ; LRRC56
0.010 GeneticVariation BEFREE We have now identified a second missense mutation in PTPN11 (G503V), and a mutation in KRAS (Q61H) present in HS cell lines. 31277422

2019
dbSNP: rs17851045
rs17851045
KRAS
0.010 GeneticVariation BEFREE We have now identified a second missense mutation in PTPN11 (G503V), and a mutation in KRAS (Q61H) present in HS cell lines. 31277422

2019
dbSNP: rs397507546
rs397507546
PTPN11
0.010 GeneticVariation BEFREE We have now identified a second missense mutation in PTPN11 (G503V), and a mutation in KRAS (Q61H) present in HS cell lines. 31277422

2019
dbSNP: rs121913341
rs121913341
BRAF
0.010 GeneticVariation BEFREE We investigated an atypical BRAF mutation, F595L, which was identified along with mutant HRAS in histiocytic sarcoma and also occurs in epithelial cancers, melanoma and neuroblastoma, and determined its interaction with mutant RAS. 26582644

2016
dbSNP: rs794729219
rs794729219
BRAF
0.010 GeneticVariation BEFREE We investigated an atypical BRAF mutation, F595L, which was identified along with mutant HRAS in histiocytic sarcoma and also occurs in epithelial cancers, melanoma and neuroblastoma, and determined its interaction with mutant RAS. 26582644

2016