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rs4977756

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 1.2 1.39x higher risk for glioma development
(G;G) 1.4 1.93x higher risk for glioma development


Make rs4977756(A;A)
ReferenceGRCh38 38.1/141
Chromosome9
Position22068653
GeneCDKN2B-AS1
is asnp
is mentioned by
dbSNPrs4977756
ebirs4977756
HLIrs4977756
Exacrs4977756
Varsomers4977756
Maprs4977756
PheGenIrs4977756
hapmaprs4977756
1000 genomesrs4977756
hgdprs4977756
ensemblrs4977756
gopubmedrs4977756
geneviewrs4977756
scholarrs4977756
googlers4977756
pharmgkbrs4977756
gwascentralrs4977756
openSNPrs4977756
23andMers4977756
23andMe allrs4977756
SNP Nexus

SNPshotrs4977756
SNPdbers4977756
MSV3drs4977756
GWAS Ctlgrs4977756
GMAF0.3049
Max Magnitude1.4
rs4977756 is a SNP near the CDKN2BAS gene.

A (GWA) study for open-angle glaucoma (OAG) blindness ultimately based on ~1500 cases concluded that the rather common rs4977756(A) allele was statistically associated with the condition, with a per allele odds ratio of 1.39 (CI: 1.28–1.51, p = 1.35 × 10e?14).[PMID 21532571]

? (A;A) (A;G) (G;G) 28
GWAS snp
PMID [PMID 19578367]
Trait Glioma
Title Genome-wide association study identifies five susceptibility loci for glioma
Risk Allele G
P-val 7E-15
Odds Ratio 1.24 [1.19-1.30]


[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

OMIM613030
Desc
Variant
Relatedalso
[PMID 19578366OA-icon.png] Variants in the CDKN2B and RTEL1 regions are associated with high-grade glioma susceptibility.


[PMID 20212223] New insights into susceptibility to glioma.


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


GET Evidence
rs4977756
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.664062
summary



GWAS snp
PMID [PMID 22886559OA-icon.png]
Trait Glioma
Title Genome-wide association study of glioma and meta-analysis.
Risk Allele G
P-val 1E-8
Odds Ratio 1.28 [1.177-1.398]


[PMID 23115063OA-icon.png] Known glioma risk loci are associated with glioma with a family history of brain tumours -- a case-control gene association study


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


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


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


[PMID 26014354] CCDC26, CDKN2BAS, RTEL1 and TERT Polymorphisms in pediatric brain tumor susceptibility


[PMID 26577493] Effect of CDKN2A/B rs4977756 polymorphism on glioma risk: a meta-analysis of 16 studies including 24077 participants


[PMID 26839018] Genetic risk variants in the CDKN2A/B, RTEL1 and EGFR genes are associated with somatic biomarkers in glioma.


[PMID 27617221] Two gene polymorphisms (rs4977756 and rs11515) in CDKN2A/B and glioma risk in South Indian population.