Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555165565
rs1555165565
TG 0.700 CausalMutation CLINVAR

dbSNP: rs1555993293
rs1555993293
NF2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs121912664
rs121912664
0.010 GeneticVariation BEFREE The present finding indicates that the TP53 p.R337H germline mutation is uncommon in patients with EPN in Brazil and screening of pediatric patients RELA fusion EPN may be informative to better understand the role of TP53 germline mutations in the development and prognosis of these tumors. 31728854

2020

dbSNP: rs1246637051
rs1246637051
0.010 GeneticVariation BEFREE The present finding indicates that the TP53 p.R337H germline mutation is uncommon in patients with EPN in Brazil and screening of pediatric patients RELA fusion EPN may be informative to better understand the role of TP53 germline mutations in the development and prognosis of these tumors. 31728854

2020

dbSNP: rs113488022
rs113488022
0.010 GeneticVariation BEFREE The p.Val600Glu was found in 14/75 grade II GG.No EP were BRAF mutated. 31673897

2019

dbSNP: rs121913377
rs121913377
0.010 GeneticVariation BEFREE The p.Val600Glu was found in 14/75 grade II GG.No EP were BRAF mutated. 31673897

2019

dbSNP: rs2853669
rs2853669
0.010 GeneticVariation BEFREE We determined telomerase enzymatic activity, hTERT mRNA expression, promoter methylation, and the rs2853669 single nucleotide polymorphism located in the hTERT promoter in a well-characterized cohort of pediatric intracranial ependymomas. 28371821

2017

dbSNP: rs121913500
rs121913500
0.010 GeneticVariation BEFREE As the presence of the p.R132H mutation in the IDH1 gene seems to be a more powerful prognostic marker than O(6)-methylguanine-DNA methyltransferase promoter status, we evaluated the presence of IDH1 mutation in Polish patients with astrocytoma, glioblastoma, oligoastrocytoma, ganglioglioma, oligodendroglioma, and ependymoma. 23934769

2014