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rs7895676

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) normal
(C;T) 1.20x increased breast cancer risk
(T;T) 1.64x increased breast cancer risk
ReferenceGRCh38 38.1/142
Chromosome10
Position121574483
GeneFGFR2
is asnp
is mentioned by
dbSNPrs7895676
ebirs7895676
HLIrs7895676
Exacrs7895676
Varsomers7895676
Maprs7895676
PheGenIrs7895676
hapmaprs7895676
1000 genomesrs7895676
hgdprs7895676
ensemblrs7895676
gopubmedrs7895676
geneviewrs7895676
scholarrs7895676
googlers7895676
pharmgkbrs7895676
gwascentralrs7895676
openSNPrs7895676
23andMers7895676
23andMe allrs7895676
SNP Nexus

SNPshotrs7895676
SNPdbers7895676
MSV3drs7895676
GWAS Ctlgrs7895676
GMAF0.376
Max Magnitude
rs7895676 is a SNP within intron 2 of the FGFR2 gene, as part of a haplotype associated with increased risk for sporadic postmenopausal ER+ breast cancer in Caucasian patients. The risk shown for this SNP is actually the risk calculated for the tightly associated SNP rs1219648.[PMID 17529973OA-icon.png]

The distinguishing feature of rs7895676 is experimental evidence indicating that it is one of two SNPs in this intron that appear to have a (the?) functional role associated with the transcriptional regulation of the FGFR2 gene. The minor alleles of both SNPs, rs7895676 and rs2981578, lead to increased transcription and increased breast cancer risk.10.1371/journal.pbio.0060108

Neighborrs11200014
Distance933
[PMID 19536173OA-icon.png] Association of FGFR2 gene polymorphisms with the risk of breast cancer in population of West Siberia


[PMID 18462018OA-icon.png] Allele-specific up-regulation of FGFR2 increases susceptibility to breast cancer.

[PMID 19223389OA-icon.png] FGFR2 variants and breast cancer risk: fine-scale mapping using African American studies and analysis of chromatin conformation.

[PMID 19434427OA-icon.png] Analytical methods for inferring functional effects of single base pair substitutions in human cancers.

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


GET Evidence
rs7895676
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.358974
summary