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rs498872

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(C;T) 1.2 1.2x higher risk for glioma development
(T;T) 1.4 1.4x higher risk for glioma development
ReferenceGRCh38 38.1/141
Chromosome11
Position118606652
GenePHLDB1
is asnp
is mentioned by
dbSNPrs498872
ebirs498872
HLIrs498872
Exacrs498872
Varsomers498872
Maprs498872
PheGenIrs498872
hapmaprs498872
1000 genomesrs498872
hgdprs498872
ensemblrs498872
gopubmedrs498872
geneviewrs498872
scholarrs498872
googlers498872
pharmgkbrs498872
gwascentralrs498872
openSNPrs498872
23andMers498872
23andMe allrs498872
SNP Nexus

SNPshotrs498872
SNPdbers498872
MSV3drs498872
GWAS Ctlgrs498872
GMAF0.2328
Max Magnitude1.4
? (C;C) (C;T) (T;T) 28
23andMe blog rs498872 A 1.18 Glioma
GWAS snp
PMID [PMID 19578367OA-icon.png]
Trait Glioma
Title Genome-wide association study identifies five susceptibility loci for glioma
Risk Allele T
P-val 1E-8
Odds Ratio 1.18 [1.13-1.24]


[PMID 20462933] Interaction between 5 genetic variants and allergy in glioma risk

[PMID 20847058OA-icon.png] Genetic risk profiles identify different molecular etiologies for glioma

[PMID 20211558OA-icon.png] Genetic advances in glioma: susceptibility genes and networks


[PMID 21350045] Association of sequence variants on chromosomes 20, 11, and 5 (20q13.33, 11q23.3, and 5p15.33) with glioma susceptibility in a Chinese population

GWAS snp
PMID [PMID 21531791OA-icon.png]
Trait
Title Chromosome 7p11.2 (EGFR) variation influences glioma risk.
Risk Allele
P-val 5E-11
Odds Ratio 1.2200 [NR]


[PMID 17846999OA-icon.png] A chromosome 11q quantitative-trait locus influences change of blood-pressure measurements over time in Mexican Americans of the San Antonio Family Heart Study.


[PMID 20212223] New insights into susceptibility to glioma.


[PMID 21825990] Genetic causes of glioma: new leads in the labyrinth.


GET Evidence
rs498872
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.773438
summary



[PMID 23361564OA-icon.png] Inherited variant on chromosome 11q23 increases susceptibility to IDH-mutated but not IDH-normal gliomas regardless of grade or histology


[PMID 23161787OA-icon.png] Association between glioma susceptibility loci and tumour pathology defines specific molecular etiologies


[PMID 23733245OA-icon.png] Genetic variants in telomerase-related genes are associated with an older age at diagnosis in glioma patients: evidence for distinct pathways of gliomagenesis.


[PMID 24935770] The PHLDB1 rs498872 (11q23.3) polymorphism and glioma risk: A meta-analysis


[PMID 25165198] Mutation-based molecular glioma classification: prevalence and association with germline risk snps


[PMID 25182002] Assessment of Glioma Risk Associated with an Inherited Variant at Chromosome 11q23


[PMID 26243184] An Updated and Comprehensive Meta-Analysis of Association Between Seven Hot Loci Polymorphisms from Eight GWAS and Glioma Risk


[PMID 26610392OA-icon.png] Functional analysis of the 11q23.3 glioma susceptibility locus implicates PHLDB1 and DDX6 in glioma susceptibility.