Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913343
rs121913343
0.710 GeneticVariation BEFREE The most frequent mutation in sporadic brain tumors is mutation R273C, which is relatively rare in grade 4 tumors compared with lower-grade tumors (p = 1.2 × 10(-5), OR 0.43, 95% CI 0.29-0.63). 24481542

2014

dbSNP: rs55819519
rs55819519
0.020 GeneticVariation BEFREE Cytosolic isocitrate dehydrogenase 1 (IDH1) with an R132H mutation in brain tumors loses its enzymatic activity for catalyzing isocitrate to α-ketoglutarate (α-KG) and acquires new activity whereby it converts α-KG to 2-hydroxyglutarate. 24077277

2013

dbSNP: rs55819519
rs55819519
0.020 GeneticVariation BEFREE A total of 343 brain tumors were studied for IDH1 and IDH2 mutations by direct sequencing and for protein expression by immunohistochemistry with mIDH1(R132H) antibody. 21643842

2011

dbSNP: rs1042522
rs1042522
0.020 GeneticVariation BEFREE We suggest that TP53 Pro47Ser and Arg72Pro polymorphisms and DNA hypermethylation are involved in susceptibility for developing extra-axial brain tumors. 19224462

2009

dbSNP: rs1131691014
rs1131691014
0.020 GeneticVariation BEFREE We suggest that TP53 Pro47Ser and Arg72Pro polymorphisms and DNA hypermethylation are involved in susceptibility for developing extra-axial brain tumors. 19224462

2009

dbSNP: rs878854066
rs878854066
0.020 GeneticVariation BEFREE We suggest that TP53 Pro47Ser and Arg72Pro polymorphisms and DNA hypermethylation are involved in susceptibility for developing extra-axial brain tumors. 19224462

2009

dbSNP: rs1042522
rs1042522
0.020 GeneticVariation BEFREE Specifically, we found (i) that the genotype distributions of the P53 Arg72Pro between all brain tumors</span> 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
0.020 GeneticVariation BEFREE Specifically, we found (i) that the genotype distributions of the P53 Arg72Pro between all brain tumors</span> 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
0.020 GeneticVariation BEFREE Specifically, we found (i) that the genotype distributions of the P53 Arg72Pro between all brain tumors</span> 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: rs78378222
rs78378222
0.010 GeneticVariation BEFREE A noncoding polymorphism (rs78378222) in TP53, carried by scores of millions of people, was previously associated with moderate risk of brain tumors and other neoplasms. 31699989

2019

dbSNP: rs1800371
rs1800371
0.010 GeneticVariation BEFREE We suggest that TP53 Pro47Ser and Arg72Pro polymorphisms and DNA hypermethylation are involved in susceptibility for developing extra-axial brain tumors. 19224462

2009