Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2271338
rs2271338
ADGRL3
0.010 GeneticVariation BEFREE A three-variant ADHD risk haplotype in evolutionary conserved region 47, formed by rs17226398, rs56038622, and rs2271338, reduced enhancer activity by 40% in neuroblastoma and astrocytoma cells (p<sub>Bonferroni</sub> < .0001). 27692237

2016
dbSNP: rs5050
rs5050
AGT
0.010 GeneticVariation BEFREE Angiotensinogen rs5050 germline genetic variant as potential biomarker of poor prognosis in astrocytoma. 30383794

2018
dbSNP: rs17522122
rs17522122
AKAP6
0.010 GeneticVariation BEFREE Whereas, rs4261436 (HR = 0.70, p = 0.045) and rs17522122 (HR = 0.75, p = 0.016) were associated with better prognosis of astrocytoma. 31759389

2019
dbSNP: rs4261436
rs4261436
AKAP6
0.010 GeneticVariation BEFREE Whereas, rs4261436 (HR = 0.70, p = 0.045) and rs17522122 (HR = 0.75, p = 0.016) were associated with better prognosis of astrocytoma. 31759389

2019
dbSNP: rs1801516
rs1801516
ATM
0.010 GeneticVariation BEFREE We propose the three-hit hypothesis as a triangle initiators includes D1853N as a first predisposing hit, IVS 38- 63T --> A as a second hit deriving from the first somatic evolution before differentiation and IVS 38- 30 A --> G as a third hit through the development of an astrocytoma. 18465141

2008
dbSNP: rs113488022
rs113488022
BRAF
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
BRAF
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
BRAF
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
BRAF
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
BRAF
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
BRAF
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
BRAF
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
BRAF
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
BRAF
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
BRAF
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: rs137852972
rs137852972
BSCL2 ; HNRNPUL2-BSCL2
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: rs773442580
rs773442580
EGF
0.010 GeneticVariation BEFREE In this study, we investigated whether stable expression of an activated Ki-Ras oncogenic mutant (G12V) in human astrocytoma cells leads to constitutive activation of the MAP kinase pathway and how this may influence cellular proliferation and signaling by epidermal growth factor (EGF) receptor. 9863009

1999
dbSNP: rs58064122
rs58064122
GFAP
0.010 GeneticVariation BEFREE On the basis of the protective role shown by both these small heat shock proteins (sHSPs), and on the already well established neuroprotective effects of curcumin in several diseases, we have investigated the effects of this compound in an in vitro model of Alexander disease, consisting in U251-MG astrocytoma cells transiently transfected with a construct encoding for GFAP carrying the p.R239C mutation in frame with the reporter green fluorescent protein (GFP). 22705585

2012
dbSNP: rs1695
rs1695
GSTP1
0.010 GeneticVariation BEFREE We examined GSTP1 Ile105Val polymorphism using PCR-RFLP in 80 astrocytoma and glioblastoma samples. 21128213

2010
dbSNP: rs121913500
rs121913500
IDH1
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
IDH1
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
IDH1
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
IDH1
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: rs1040177874
rs1040177874
IDH1
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
IDH1
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