Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519369
rs1057519369
NF1
TG 0.700 CausalMutation CLINVAR

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: rs1476157710
rs1476157710
WNT10B
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: rs371409680
rs371409680
TP53
0.010 GeneticVariation BEFREE To examine this issue, we analyzed the significance of sequential accumulation of two somatic point mutations (R267W and E258D) in the TP53 gene during the initiation of astrocytoma in a patient born with a single germ-line p53 point mutation (R283H). 12019170

2002
dbSNP: rs55832599
rs55832599
TP53
0.010 GeneticVariation BEFREE To examine this issue, we analyzed the significance of sequential accumulation of two somatic point mutations (R267W and E258D) in the TP53 gene during the initiation of astrocytoma in a patient born with a single germ-line p53 point mutation (R283H). 12019170

2002
dbSNP: rs766727892
rs766727892
TCF7L2
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: rs866419664
rs866419664
TP53
0.010 GeneticVariation BEFREE To examine this issue, we analyzed the significance of sequential accumulation of two somatic point mutations (R267W and E258D) in the TP53 gene during the initiation of astrocytoma in a patient born with a single germ-line p53 point mutation (R283H). 12019170

2002
dbSNP: rs867657798
rs867657798
TCF4
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: rs868162712
rs868162712
TCF4
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: rs1042522
rs1042522
TP53
0.010 GeneticVariation BEFREE Specifically, we found (i) that the genotype distributions of the P53 Arg72Pro between all brain tumors and controls were statistically significant (P < 0.001) as well as their variant allele frequencies between cases and controls (P < 0.001); (ii) that there was a significant increase in the Arg/Pro heterozygous genotype among high-grade astrocytomas compared with non-astrocytomas (P = 0.002); and (iii) that there was a significant increase in the Arg/Pro heterozygous genotype among high-grade astrocytomas containing transdominant as well as recessive p53 mutations compared with controls (P = 0.002). 15950766

2005
dbSNP: rs1131691014
rs1131691014
TP53
0.010 GeneticVariation BEFREE Specifically, we found (i) that the genotype distributions of the P53 Arg72Pro between all brain tumors and controls were statistically significant (P < 0.001) as well as their variant allele frequencies between cases and controls (P < 0.001); (ii) that there was a significant increase in the Arg/Pro heterozygous genotype among high-grade astrocytomas compared with non-astrocytomas (P = 0.002); and (iii) that there was a significant increase in the Arg/Pro heterozygous genotype among high-grade astrocytomas containing transdominant as well as recessive p53 mutations compared with controls (P = 0.002). 15950766

2005
dbSNP: rs878854066
rs878854066
TP53
0.010 GeneticVariation BEFREE Specifically, we found (i) that the genotype distributions of the P53 Arg72Pro between all brain tumors and controls were statistically significant (P < 0.001) as well as their variant allele frequencies between cases and controls (P < 0.001); (ii) that there was a significant increase in the Arg/Pro heterozygous genotype among high-grade astrocytomas compared with non-astrocytomas (P = 0.002); and (iii) that there was a significant increase in the Arg/Pro heterozygous genotype among high-grade astrocytomas containing transdominant as well as recessive p53 mutations compared with controls (P = 0.002). 15950766

2005
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: rs121913500
rs121913500
IDH1
0.800 GeneticVariation BEFREE IDH1 R132H mutations occur in approximately 70% of astrocytomas and oligodendroglial tumors. 19798509

2009
dbSNP: rs121913500
rs121913500
IDH1
T 0.800 GeneticVariation CLINVAR IDH1 R132H mutations occur in approximately 70% of astrocytomas and oligodendroglial tumors. 19798509

2009
dbSNP: rs121913500
rs121913500
IDH1
T 0.800 GeneticVariation CLINVAR Furthermore, IMab-1 specifically stained the IDH1(R132H)-expressing cells in astrocytomas in immunohistochemistry, whereas it did not react with IDH1(R132H)-negative primary glioblastoma sections. 19818334

2009
dbSNP: rs121913500
rs121913500
IDH1
0.800 GeneticVariation BEFREE Furthermore, IMab-1 specifically stained the IDH1(R132H)-expressing cells in astrocytomas in immunohistochemistry, whereas it did not react with IDH1(R132H)-negative primary glioblastoma sections. 19818334

2009
dbSNP: rs121913499
rs121913499
IDH1
0.720 GeneticVariation BEFREE Without exception, all were R132C (CGT-->TGT), which in sporadic astrocytomas accounts for <5% of IDH1 mutations. 19340432

2009
dbSNP: rs121913499
rs121913499
IDH1
0.720 GeneticVariation BEFREE IDH1 mutations of the R132C type are strongly associated with astrocytoma, while IDH2 mutations predominantly occur in oligodendroglial tumors. 19554337

2009
dbSNP: rs281865545
rs281865545
PECAM1
0.010 GeneticVariation BEFREE ICAM-1 (Lys469Glu) and PECAM-1 (Leu125Val) polymorphisms in diffuse astrocytomas. 19306055

2009
dbSNP: rs5498
rs5498
ICAM1 ; ICAM4
0.010 GeneticVariation BEFREE ICAM-1 (Lys469Glu) and PECAM-1 (Leu125Val) polymorphisms in diffuse astrocytomas. 19306055

2009
dbSNP: rs751857027
rs751857027
QTRT1
0.010 GeneticVariation BEFREE Without exception, all were R132C (CGT-->TGT), which in sporadic astrocytomas accounts for <5% of IDH1 mutations. 19340432

2009
dbSNP: rs770374782
rs770374782
TP53
0.010 GeneticVariation BEFREE Without exception, all were R132C (CGT-->TGT), which in sporadic astrocytomas accounts for <5% of IDH1 mutations. 19340432

2009
dbSNP: rs113488022
rs113488022
BRAF
0.080 GeneticVariation BEFREE BRAF(V600E) mutation seems to define a subset of malignant astrocytomas in children, in which there is frequent concomitant homozygous deletion of CDKN2A (five of seven cases). 20068183

2010
dbSNP: rs121913377
rs121913377
BRAF
0.080 GeneticVariation BEFREE BRAF(V600E) mutation seems to define a subset of malignant astrocytomas in children, in which there is frequent concomitant homozygous deletion of CDKN2A (five of seven cases). 20068183

2010