rs1966265

This is a variant in the FGFR4 gene that changes a valine to an isoleucine.

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GWAS Catalog Trait Associations (7)

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

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele A
OR 0.05
p 1.0e-300
N 4,080,687
Large GWAS
European

hip geometry

Baird DA et al. “Identification of Novel Loci Associated With Hip Shape: A Meta-Analysis of Genomewide Association Studies” Journal of Bone and Mineral Research (2019)
Allele T
OR 0.13
p 4.0e-20
N 15,934
Meta-analysisLarge GWAS
European

forced expiratory volume

Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele G
OR 0.02
p 2.0e-14
N 373,397
Large GWAS
European

BMI-adjusted hip circumference

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele A
OR 0.03
p 4.0e-14
N 186,825
Major Consortium StudyLarge GWAS
European

type 2 diabetes mellitus

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.05
p 7.0e-12
N 667,504
Large GWAS
multi-ancestry

BMI-adjusted waist circumference

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele A
OR 0.02
p 3.0e-12
N 219,872
Major Consortium StudyLarge GWAS
European

BMI-adjusted waist-hip ratio

Justice AE et al. “Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution.” Nature Genetics 51(3):452-469 (2019)
Allele A
OR 0.02
p 2.0e-19
N 344,369
Large GWAS
multi-ancestry
Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele A
OR 0.04
p 3.0e-26
N 186,825
Major Consortium StudyLarge GWAS
European
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ClinVar annotation

Benign★☆☆☆
2 submitters

FGFR4-related disorder

View on ClinVar →
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Research that mentions this SNP (1)

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Identification of Novel Loci Associated With Hip Shape: A Meta-Analysis of Genomewide Association Studies
Meta-analysisN=15,934Baird DA et al.(2019)· Journal of Bone and Mineral Research

A GWAS meta-analysis of 15,934 individuals identified 9 SNPs across 8 loci associated with hip shape phenotypes derived from DXA scans. Five SNPs were associated with hip shape mode 1 (HSM1) at genome-wide significance (p < 5×10⁻⁹), three with HSM2, and one with HSM5. Most loci were close to genes involved in endochondral bone formation (SOX9, PTHLH, FGFR4, NKX3-2, DICER1, RUNX1, HHIP) and also associated with height. Three SNPs showed associations with hip osteoarthritis and one with hip fracture risk.

Traits studied:Femoral neck bone mineral densityHeightHip fractureHip osteoarthritisHip shapeWaist circumference
PubMedDOIMetascience Observatory

About FGFR4

The protein encoded by this gene is a tyrosine kinase and cell surface receptor for fibroblast growth factors. The encoded protein is involved in the regulation of several pathways, including cell proliferation, cell differentiation, cell migration, lipid metabolism, bile acid biosynthesis, vitamin D metabolism, glucose uptake, and phosphate homeostasis. This 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 interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. [provided by RefSeq, Aug 2017]

View all FGFR4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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