Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113488022
rs113488022
0.050 GeneticVariation BEFREE Thus BRAF V600E mutation is common in desmoplastic non-infantile astrocytoma/ganglioglioma, but does not affect the prognosis. 29902580

2018

dbSNP: rs113488022
rs113488022
0.050 GeneticVariation BEFREE We report four cases of high-grade astrocytoma with a BRAF V600E mutation, ATRX inactivation, and CDKN2A/B homozygous deletion. 30972500

2019

dbSNP: rs113488022
rs113488022
0.050 GeneticVariation BEFREE BRAF V600E mutation was observed both in epithelioid tumor cells and in diffusely infiltrating less atypical astrocytoma cells. 24354918

2014

dbSNP: rs113488022
rs113488022
0.050 GeneticVariation BEFREE The BRAF(V600E) inhibitor PLX4720 significantly increased survival of mice after intracranial transplant of genetically relevant murine or human astrocytoma cells. 22586120

2012

dbSNP: rs113488022
rs113488022
0.050 GeneticVariation BEFREE The BT-40 low-grade childhood astrocytoma xenograft model expresses mutated BRAF(V600E) and is highly sensitive to the MEK inhibitor selumetinib (AZD6244). 24132923

2013

dbSNP: rs121913377
rs121913377
0.050 GeneticVariation BEFREE The BRAF(V600E) inhibitor PLX4720 significantly increased survival of mice after intracranial transplant of genetically relevant murine or human astrocytoma cells. 22586120

2012

dbSNP: rs121913377
rs121913377
0.050 GeneticVariation BEFREE The BT-40 low-grade childhood astrocytoma xenograft model expresses mutated BRAF(V600E) and is highly sensitive to the MEK inhibitor selumetinib (AZD6244). 24132923

2013

dbSNP: rs121913377
rs121913377
0.050 GeneticVariation BEFREE Thus BRAF V600E mutation is common in desmoplastic non-infantile astrocytoma/ganglioglioma, but does not affect the prognosis. 29902580

2018

dbSNP: rs121913377
rs121913377
0.050 GeneticVariation BEFREE BRAF V600E mutation was observed both in epithelioid tumor cells and in diffusely infiltrating less atypical astrocytoma cells. 24354918

2014

dbSNP: rs121913377
rs121913377
0.050 GeneticVariation BEFREE We report four cases of high-grade astrocytoma with a BRAF V600E mutation, ATRX inactivation, and CDKN2A/B homozygous deletion. 30972500

2019

dbSNP: rs121913500
rs121913500
0.040 GeneticVariation BEFREE Of these, we recommend, OA,NOS and IDH1(R132H)-non-mt ODG,NOS to be our priority for performing 1p/19q co-deletion studies in comparison to IDH-mt ODG,NOS, and it would not be mandatory for astrocytoma. 28801347

2018

dbSNP: rs121913500
rs121913500
0.040 GeneticVariation BEFREE ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis and IDH sequencing as a basis for an "integrated" diagnostic approach for adult astrocytoma, oligodendroglioma and glioblastoma. 25427834

2015

dbSNP: rs121913500
rs121913500
0.040 GeneticVariation BEFREE Here, an in-depth characterization of IDH1 R132H mutations were assessed by immunohistochemistry in 55 paired primary-recurrent astrocytomas tissues, including 5 paired primary pilocytic astrocytoma (pPA, WHO grade I), 35 paired primary low grade astrocytoma (pLGA, WHO grade II and III) and 15 paired primary high grade astrocytoma (pHGA/ Glioblastoma, WHO grade IV). 28928859

2017

dbSNP: rs121913500
rs121913500
0.040 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

dbSNP: rs118101777
rs118101777
0.020 GeneticVariation BEFREE Of these, we recommend, OA,NOS and IDH1(R132H)-non-mt ODG,NOS to be our priority for performing 1p/19q co-deletion studies in comparison to IDH-mt ODG,NOS, and it would not be mandatory for astrocytoma. 28801347

2018

dbSNP: rs118101777
rs118101777
0.020 GeneticVariation BEFREE ATRX and IDH1-R132H immunohistochemistry with subsequent copy number analysis and IDH sequencing as a basis for an "integrated" diagnostic approach for adult astrocytoma, oligodendroglioma and glioblastoma. 25427834

2015

dbSNP: rs2297440
rs2297440
0.020 GeneticVariation BEFREE In the recessive model, we found two tSNPs (rs2297440 and rs6010620) associated with increased astrocytoma risk. 23812731

2013

dbSNP: rs2297440
rs2297440
0.020 GeneticVariation BEFREE Moreover, the stratified analyses showed a decreased risk of astrocytoma associated with RTEL1 rs6089953, rs6010620 and rs2297440 (p trend = 0.022, p trend = 0.042, p trend = 0.029, respectively) as well as an increased risk of this subtype associated with RTEL1 rs4809324 (p trend = 0.033). 26014354

2015

dbSNP: rs1040177874
rs1040177874
0.010 GeneticVariation BEFREE Identification of a novel inactivating mutation in Isocitrate Dehydrogenase 1 (IDH1-R314C) in a high grade astrocytoma. 27460417

2016

dbSNP: rs121913499
rs121913499
0.010 GeneticVariation BEFREE IDH1 mutations of the R132C type are strongly associated with astrocytoma, while IDH2 mutations predominantly occur in oligodendroglial tumors. 19554337

2009

dbSNP: rs12594
rs12594
0.010 GeneticVariation BEFREE Cox regression analysis shows that RYR2 rs12594 AA genotype and AG genotype were associated with OS of astrocytoma (AG genotype: HR = 1.62, 95% CI 1.04-2.53, p = 0.034; AA genotype: HR = 1.70, 95% CI 1.08-2.68, p = 0.021). 31440994

2019

dbSNP: rs137852972
rs137852972
0.010 GeneticVariation BEFREE In this study, we show that expression of seipin N-glycosylation mutant N88S led to decreased triglyceride (TG) content in astrocytoma and motor neuron cell lines. 23250914

2013

dbSNP: rs1476157710
rs1476157710
0.010 GeneticVariation BEFREE Furthermore, an in vitro functional assay showed that S73F and S23G mutants of beta-catenin did not affect transcriptional activity in TCF-4-leuciferase reporter construct, suggesting that they may need more complex factors to participate in astrocytoma. 12049819

2002

dbSNP: rs16835904
rs16835904
0.010 GeneticVariation BEFREE Stratified analysis shows that RYR2 rs16835904 TC-TT genotype facilitated the risk of astrocytoma in male (OR = 1.93, 95% CI 1.15-3.24, p = 0.011). 31440994

2019

dbSNP: rs1695
rs1695
0.010 GeneticVariation BEFREE We examined GSTP1 Ile105Val polymorphism using PCR-RFLP in 80 astrocytoma and glioblastoma samples. 21128213

2010