Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519903
rs1057519903
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.080 GeneticVariation BEFREE Mutated IDH1 R132H protein and H3F3A K27M mutations indicate that a substantial number of GBMc are "metastatic" or "diaschismatic" lesions. 30203362

2018

dbSNP: rs1057519903
rs1057519903
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.080 GeneticVariation BEFREE Histologically, the tumor was considered to be glioblastoma; however, a part of the tumor exhibiting low proliferative activity appeared to be consistent with long-standing H3 K27M-mutant tumors in the literature.Another case was a 69-year-old male. 28547652

2017

dbSNP: rs1057519903
rs1057519903
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.080 GeneticVariation BEFREE These results demonstrate that we have developed a new reliable procedure for detecting the H3F3A K27M mutation in pediatric glioblastoma patient samples. 26376656

2016

dbSNP: rs1057519903
rs1057519903
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.080 GeneticVariation BEFREE Histone H3.3 (H3F3A) mutation in the codon for lysine 27 (K27M) has been found as driver mutations in pediatric glioblastoma and has been suggested to play critical roles in the pathogenesis of thalamic gliomas and diffuse intrinsic pontine gliomas. 27392443

2016

dbSNP: rs1057519903
rs1057519903
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.080 GeneticVariation BEFREE These results suggest that immunohistochemical detection of H3.3 K27M is a sensitive and specific surrogate for the H3F3A K27M mutation and defines a prognostically poor subset of pediatric GBM. 25200322

2014

dbSNP: rs1057519903
rs1057519903
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.080 GeneticVariation BEFREE The K27M mutation occurred in 35 of 129 glioblastomas (27.1%) and in 5 of 28 (17.9%) anaplastic astrocytomas. 23429371

2013

dbSNP: rs1057519903
rs1057519903
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.080 GeneticVariation BEFREE Our results indicate that H3F3A K27M mutant GBMs show decreased H3K27me3 that may be of both diagnostic and biological relevance. 23414300

2013

dbSNP: rs1057519903
rs1057519903
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.080 GeneticVariation BEFREE Recent studies on high-grade pediatric GBM have identified two recurrent mutations (K27M and G34R/V) in genes encoding histone H3 (H3F3A for H3.3 and HIST1H3B for H3.1). 23907119

2013