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rs2981579

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) common
(C;T) 1.20x risk for breast cancer
(T;T) 1.64x risk for breast cancer
ReferenceGRCh38 38.1/142
Chromosome10
Position121577821
GeneFGFR2
is asnp
is mentioned by
dbSNPrs2981579
ebirs2981579
HLIrs2981579
Exacrs2981579
Varsomers2981579
Maprs2981579
PheGenIrs2981579
hapmaprs2981579
1000 genomesrs2981579
hgdprs2981579
ensemblrs2981579
gopubmedrs2981579
geneviewrs2981579
scholarrs2981579
googlers2981579
pharmgkbrs2981579
gwascentralrs2981579
openSNPrs2981579
23andMers2981579
23andMe allrs2981579
SNP Nexus

SNPshotrs2981579
SNPdbers2981579
MSV3drs2981579
GWAS Ctlgrs2981579
GMAF0.4853
Max Magnitude
? (C;C) (C;T) (T;T) 28

This SNP is basically a proxy for SNP rs1219648, which represents the SNP in the FGFR2 gene with the strongest association with breast cancer. {Note: the alleles shown for this SNP in SNPedia are in orientation to the dbSNP entry, not as published.] [PMID 17529973OA-icon.png]

GWAS snp
PMID [PMID 19330030OA-icon.png]
Trait Breast cancer
Title A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1)
Risk Allele T
P-val 2E-10
Odds Ratio


GWAS snp
PMID [PMID 20453838OA-icon.png]
Trait Breast cancer
Title Genome-wide association study identifies five new breast cancer susceptibility loci
Risk Allele A
P-val 4E-31
Odds Ratio 1.43 [1.35-1.53]


[PMID 21445572] Genetic polymorphisms and breast cancer risk: evidence from meta-analyses, pooled analyses, and genome-wide association studies

[PMID 18285324OA-icon.png] Common variation in the fibroblast growth factor receptor 2 gene is not associated with endometriosis risk.

[PMID 18326623OA-icon.png] Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33.

[PMID 19497954OA-icon.png] Histone-acetylated control of fibroblast growth factor receptor 2 intron 2 polymorphisms and isoform splicing in breast cancer.

[PMID 19500394OA-icon.png] Genetic variants in FGFR2 and FGFR4 genes and skin cancer risk in the Nurses' Health Study.

[PMID 20554749OA-icon.png] FGFR2 and other loci identified in genome-wide association studies are associated with breast cancer in African-American and younger women.

[PMID 22160591] A genetic risk predictor for breast cancer using a combination of low-penetrance polymorphisms in a Japanese population.


GET Evidence
rs2981579
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.476562
summary



GWAS snp
PMID [PMID 23535729OA-icon.png]
Trait Breast cancer
Title Large-scale genotyping identifies 41 new loci associated with breast cancer risk.
Risk Allele A
P-val 2E-170
Odds Ratio 1.27 [1.24-1.29]


[PMID 24454457OA-icon.png] Case-control study on the fibroblast growth factor receptor 2 gene polymorphisms associated with breast cancer in chinese han women


[PMID 22965832] Association of common genetic variants with breast cancer risk and clinicopathological characteristics in a Chinese population.


[PMID 23124475] Three novel functional polymorphisms in the promoter of FGFR2 gene and breast cancer risk: a HuGE review and meta-analysis.


[PMID 26175953] FGFR2 gene polymorphisms are associated with breast cancer risk in the Han Chinese population