Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs148402804
rs148402804
0.010 GeneticVariation BEFREE We recently reported a founder mutation (p.Pro937Arg) in the ZNF687 gene, underlying PDB complicated by giant cell tumor (GCT/PDB) and rarely occurring in PDB patients without neoplastic degeneration. 29493781

2018

dbSNP: rs113488022
rs113488022
0.010 GeneticVariation BEFREE Histiocytic sarcoma exhibited the highest rate of BRAF(V600E) (62.5%, five of eight), followed by Langerhans cell tumours (25%, seven of 28), FDC sarcoma (18.5%, five of 27) and giant cell tumour (6.7%, two of 30). 24720374

2014

dbSNP: rs121913377
rs121913377
0.010 GeneticVariation BEFREE Histiocytic sarcoma exhibited the highest rate of BRAF(V600E) (62.5%, five of eight), followed by Langerhans cell tumours (25%, seven of 28), FDC sarcoma (18.5%, five of 27) and giant cell tumour (6.7%, two of 30). 24720374

2014