rs1047100

This is a synonymous variant in the FGFR2 gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (1)

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

serum gamma-glutamyl transferase measurement

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)

Allele T

OR 0.02

p 4.0e-16

N 928,679

Large GWAS

multi-ancestry

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ClinVar annotation

Benign★★★☆

1 submitter2 publications

Beare-Stevenson cutis gyrata syndrome (BSTVS); Craniosynostosis syndrome; Crouzon syndrome; FGFR2-related craniosynostosis; Isolated Coronal Synostosis; Saethre-Chotzen syndrome (SCS); not specified

View on ClinVar →

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Research that mentions this SNP (1)

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Testing reported associations of genetic risk factors for oral clefts in a large Irish study population

AssociationN=3,351Tonia C. Carter et al.(2010)· Birth Defects Research Part A: Clinical and Molecular Teratology

A large candidate gene study testing associations between nonsyndromic oral clefts and 12 genes (CLPTM1, CRISPLD2, FGFR2, GABRB3, GLI2, IRF6, PTCH1, RARA, RYK, SATB2, SUMO1, TGFA) in an Irish population of 509 cleft lip with or without palate (CLP) cases, 383 cleft palate only cases, and 902 controls. The study confirmed associations with PTCH1, SUMO1, and TGFA as contributing to nonsyndromic oral clefts, with PTCH1 P1315L showing significant association with CLP.

Traits studied:Cleft lip with or without cleft palate (CLP)Cleft palate only (CP)Nonsyndromic oral clefts

PubMed DOI Metascience 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]