rs7955866

This is a variant in the FGF23 gene that changes a threonine to an methionine.

▶

GWAS Catalog Trait Associations (1)

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

blood phosphate measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.07
p 2.0e-68
N 325,141
Major Consortium StudyLarge GWAS
multi-ancestry
▶

ClinVar annotation

Benign★★★☆
7 submitters8 publications

Autosomal dominant hypophosphatemic rickets (ADHR); Tumoral calcinosis, hyperphosphatemic, familial, 2; not specified

View on ClinVar →

About FGF23

This gene encodes a member of the fibroblast growth factor family of proteins, which possess broad mitogenic and cell survival activities and are involved in a variety of biological processes. The product of this gene regulates phosphate homeostasis and transport in the kidney. The full-length, functional protein may be deactivated via cleavage into N-terminal and C-terminal chains. Mutation of this cleavage site causes autosomal dominant hypophosphatemic rickets (ADHR). Mutations in this gene are also associated with hyperphosphatemic familial tumoral calcinosis (HFTC). [provided by RefSeq, Feb 2013]

View all FGF23 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…