rs4338740

This is a intron variant variant in the FGF7 gene.

▶

GWAS Catalog Trait Associations (5)

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

thyroglobulin measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.08
p 1.0e-36
N 47,745
Large GWAS
European

Toxic Nodular Goiter

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.30
p 4.0e-29
N 120,196
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean

thyroid gland volume

Teumer A et al. “Genome-wide association study identifies four genetic loci associated with thyroid volume and goiter risk.” American Journal of Human Genetics 88(5):664-73 (2011)
Allele C
OR 1.45
p 3.0e-13
N 3,620
Large GWAS
European

hyperthyroidism

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.18
p 3.0e-12
N 634,149
Large GWAS
multi-ancestry

multinodular goiter

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.42
p 9.0e-29
N 120,702
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean

About FGF7

The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein is a potent epithelial cell-specific growth factor, whose mitogenic activity is predominantly exhibited in keratinocytes but not in fibroblasts and endothelial cells. Studies of mouse and rat homologs of this gene implicated roles in morphogenesis of epithelium, reepithelialization of wounds, hair development and early lung organogenesis. [provided by RefSeq, Jul 2008]

View all FGF7 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…