rs7895676

This is a intron variant variant in the FGFR2 gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

cancer

Schoeler T et al. “Participation bias in the UK Biobank distorts genetic associations and downstream analyses.” Nature Human Behaviour 7(7):1216-1227 (2023)
Allele C
OR 0.00
p 1.0e-10
N 283,034
Major Consortium StudyLarge GWAS
European
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Research that mentions this SNP (2)

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FGFR2 intronic polymorphisms interact with reproductive risk factors of breast cancer: Results of a case control study in Japan
AssociationN=1,368Takakazu Kawase et al.(2009)· International Journal of Cancer

Case-control study in Japan (456 cases, 912 controls) demonstrating that FGFR2 intronic SNPs (rs2981579, rs1219648, rs2420946, rs2981582) are associated with breast cancer risk (OR=1.29-1.53 for rs2420946), with rs2420946 showing a population-attributable risk of 17.7%. The SNPs interact with reproductive risk factors including age at menarche (interaction p=0.019) and parity (interaction p=0.026), suggesting effects on reproductive hormone-related pathways.

Traits studied:Breast cancer
PubMedDOIMetascience Observatory
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Analytical methods for inferring functional effects of single base pair substitutions in human cancers
ReviewWilliam Lee et al.(2009)· Human Genetics

This review examines statistical and computational approaches for identifying functional single-nucleotide substitutions in cancer, including frequency-based methods for identifying highly mutated genes in cancer sequencing studies and bioinformatics approaches for predicting the functional impact of non-synonymous mutations and polymorphisms. The paper discusses both somatic mutations in cancer (driver vs. passenger mutations) and germline variants identified through GWAS, with emphasis on methods for analyzing amino acid changes, regulatory SNPs (such as rs6983267 associated with colorectal cancer), and non-coding mutations.

Traits studied:Beta-thalassemiaBreast cancerCancer (general)Chronic lymphocytic leukemiaChronic myelogenous leukemiaColorectal cancerGlioblastomaLung cancerProstate cancerSquamous cell carcinoma
PubMedDOIMetascience Observatory

About FGFR2

The protein encoded by this gene is a member of the fibroblast growth factor receptor family, where amino acid sequence is highly conserved between members and throughout evolution. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein consists of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member is a high-affinity receptor for acidic, basic and/or keratinocyte growth factor, depending on the isoform. Mutations in this gene are associated with Crouzon syndrome, Pfeiffer syndrome, Craniosynostosis, Apert syndrome, Jackson-Weiss syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome, and syndromic craniosynostosis. Multiple alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jan 2009]

View all FGFR2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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