rs1250259

This variant is located in the FN1 gene.

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GWAS Catalog Trait Associations (14)

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

integrin alpha-5 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele A

OR 0.12

p 2.0e-91

N 47,745

Large GWAS

European

pulse pressure measurement

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)

Allele A

OR 0.28

p 8.0e-35

N 1,028,980

Large GWAS

multi-ancestry

Plotnikov D et al. “High Blood Pressure and Intraocular Pressure: A Mendelian Randomization Study.” Investigative Ophthalmology & Visual Science 63(6):29 (2022)

Allele A

OR 0.23

p 1.0e-16

N 526,001

Large GWAS

European

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 0.03

p 6.0e-29

N 506,308

Large GWAS

multi-ancestry

Giri A et al. “Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.” Nature Genetics 51(1):51-62 (2019)

Allele A

OR 0.42

p 3.0e-16

N 459,777

Large GWAS

multi-ancestry

Yang ML et al. “Sex-specific genetic architecture of blood pressure.” Nature Medicine 30(3):818-828 (2024)

Allele A

OR 0.03

p 8.0e-24

N 349,328

Large GWAS

multi-ancestry

Warren HR et al. “Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk.” Nature Genetics 49(3):403-415 (2017)

Allele A

OR 0.31

p 9.0e-19

N 140,886

Large GWAS

European

low density lipoprotein cholesterol measurement

Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)

Allele A

OR 0.02

p 1.0e-21

N 1,320,016

Large GWAS

European

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 A

OR 0.02

p 1.0e-13

N 928,679

Large GWAS

multi-ancestry

systolic blood pressure

Allele A

OR 0.30

p 1.0e-20

N 1,028,980

Large GWAS

multi-ancestry

Allele A

OR 0.02

p 1.0e-18

N 928,679

Large GWAS

multi-ancestry

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 0.02

p 3.0e-14

N 485,664

Large GWAS

multi-ancestry

Giri A et al. “Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.” Nature Genetics 51(1):51-62 (2019)

Allele A

OR 0.45

p 1.0e-9

N 459,777

Large GWAS

multi-ancestry

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele A

OR 0.02

p 2.0e-13

N 394,642

Large GWAS

European

total cholesterol measurement

Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)

Allele A

OR 0.02

p 1.0e-19

N 1,320,016

Large GWAS

European

Allele A

OR 0.02

p 2.0e-13

N 928,679

Large GWAS

multi-ancestry

level of bleomycin hydrolase in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele A

OR 0.04

p 3.0e-18

N 47,745

Large GWAS

European

protein kinase C-binding protein NELL2 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele A

OR 0.05

p 1.0e-17

N 47,745

Large GWAS

European

diastolic blood pressure

Giri A et al. “Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.” Nature Genetics 51(1):51-62 (2019)

Allele T

OR 0.43

p 1.0e-16

N 459,777

Large GWAS

multi-ancestry

non-high density lipoprotein cholesterol measurement

Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)

Allele T

OR 0.02

p 9.0e-16

N 1,320,016

Large GWAS

European

BMI-adjusted waist-hip ratio

Pulit SL et al. “Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.” Human Molecular Genetics 28(1):166-174 (2019)

Allele A

OR 0.02

p 1.0e-15

N 379,501

Meta-analysisLarge GWAS

European

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ClinVar annotation

Benign★★★☆

8 submitters2 publications

Spondyloepimetaphyseal dysplasia, Strudwick type; not provided; Spondylometaphyseal dysplasia - Sutcliffe type; Glomerulopathy with fibronectin deposits 2; not specified

View on ClinVar →

About FN1

This gene encodes fibronectin, a glycoprotein present in a soluble dimeric form in plasma, and in a dimeric or multimeric form at the cell surface and in extracellular matrix. The encoded preproprotein is proteolytically processed to generate the mature protein. Fibronectin is involved in cell adhesion and migration processes including embryogenesis, wound healing, blood coagulation, host defense, and metastasis. The gene has three regions subject to alternative splicing, with the potential to produce 20 different transcript variants, at least one of which encodes an isoform that undergoes proteolytic processing. The full-length nature of some variants has not been determined. [provided by RefSeq, Jan 2016]

rs1250259

GWAS Catalog Trait Associations (14)

integrin alpha-5 measurement

pulse pressure measurement

low density lipoprotein cholesterol measurement

systolic blood pressure

total cholesterol measurement

level of bleomycin hydrolase in blood

protein kinase C-binding protein NELL2 measurement

diastolic blood pressure

non-high density lipoprotein cholesterol measurement

BMI-adjusted waist-hip ratio

ClinVar annotation

About FN1

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