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rs55705857

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0.1 normal (lower risk of glioma)
(A;G) 3 6x increased risk of glioma of IDH1/IDH2 subtype
(G;G) 3 6x increased risk of glioma of IDH1/IDH2 subtype
ReferenceGRCh38 38.1/141
Chromosome8
Position129633446
is asnp
is mentioned by
dbSNPrs55705857
ebirs55705857
HLIrs55705857
Exacrs55705857
Varsomers55705857
Maprs55705857
PheGenIrs55705857
hapmaprs55705857
1000 genomesrs55705857
hgdprs55705857
ensemblrs55705857
gopubmedrs55705857
geneviewrs55705857
scholarrs55705857
googlers55705857
pharmgkbrs55705857
gwascentralrs55705857
openSNPrs55705857
23andMers55705857
23andMe allrs55705857
SNP Nexus

SNPshotrs55705857
SNPdbers55705857
MSV3drs55705857
GWAS Ctlgrs55705857
GMAF0.02663
Max Magnitude3
rs55705857 is a SNP located in a relatively gene-poor area of chromosomal region 8q24.21, near other SNPs that have been associated with certain cancers (prostate and ovarian).

A study [PMID 22922872OA-icon.png] by UCSF and Mayo Clinic researchers of over 1,600 glioblastoma patients concluded that carriers of a rs55705857(G) allele are at 5 - 6 fold higher risk for developing a glioma disease subtype categorized by harboring IDH1 or IDH2 (somatic) mutations (for example, with oligodendrogliomas, the odds ratio was 6.3, CI 4.6–8.8, p = 2.2 × 10e−28). These risk factors are among the highest ever reported for cancer-associated SNPs found in a SNP survey; nonetheless, keep in mind that glioblastomas are quite rare, with on average 2 - 3 people per 100,000 diagnosed per year, even with an allele frequency for rs55705857(G) of between 2 - 8%.

See also: http://www.genengnews.com/gen-news-highlights/gene-variant-raises-brain-tumor-risk/81247234/

[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 23399484OA-icon.png] Deciphering the 8q24.21 association for glioma [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 25165198] Mutation-based molecular glioma classification: prevalence and association with germline risk snps

[PMID 25165335] Beneficial outcomes after pcv plus rt in oligodendroglial tumors are associated with detection or risk of an idh mutation [PMID 27282637] IDH-mutant glioma specific association of rs55705857 located at 8q24.21 involves MYC deregulation.