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rs4968451

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 Normal risk for meningioma
(A;C) 2 1.61x increased risk for meningioma
(C;C) 2.1 2.33x increased risk for meningioma
ReferenceGRCh38 38.1/141
Chromosome17
Position61849946
GeneBRIP1
is asnp
is mentioned by
dbSNPrs4968451
dbSNP (classic)rs4968451
ClinGenrs4968451
ebirs4968451
HLIrs4968451
Exacrs4968451
Gnomadrs4968451
Varsomers4968451
LitVarrs4968451
Maprs4968451
PheGenIrs4968451
Biobankrs4968451
1000 genomesrs4968451
hgdprs4968451
ensemblrs4968451
geneviewrs4968451
scholarrs4968451
googlers4968451
pharmgkbrs4968451
gwascentralrs4968451
openSNPrs4968451
23andMers4968451
SNPshotrs4968451
SNPdbers4968451
MSV3drs4968451
GWAS Ctlgrs4968451
GMAF0.2516
Max Magnitude2.1
? (A;A) (A;C) (C;C) 28


rs4968451, which is in a breast cancer susceptibility gene, was associated with increased risk of meningioma, a common form of brain tumor, in a combination of five studies totaling 631 European case patients as well 637 European control subjects.

"Meningioma risks associated with hetero- and homozygosity for the minor allele of were 1.61 (95% CI = 1.26 to 2.06) and 2.33 (95% CI = 1.25 to 4.34), respectively, and were thus compatible with a multiplicative model of action." The risk allele and minor allele is rs4968451(C). Around 30% of Europeans carry one of risk genotypes, i.e. rs4968451(A;C) or (C;C); and perhaps 16% of meningiomas might be associated with this SNP.[PMID 18270339]


[PMID 18505952OA-icon.png] Genetic susceptibility to cancer: the role of polymorphisms in candidate genes.


[PMID 19276285OA-icon.png] Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.


[PMID 29581016] CASP8, XRCC1, WRN, NF2 and BRIP1 polymorphisms analysis reveals their genetic susceptibility for meningioma risk and the association with tumor-related phenotype in Chinese population.