rs1250258

This variant is located in the FN1 gene.

GWAS Catalog Trait Associations (9)

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

body height

Allele C
OR 0.02
p 3.0e-107
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian

fibronectin fragment 3 measurement

Allele C
OR 0.71
p 1.0e-49
N 997
Small GWAS
multi-ancestry
Allele C
OR 0.39
p 2.0e-38
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

fibronectin measurement

Allele C
OR 0.44
p 5.0e-46
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)
Allele C
OR 0.31
p 1.0e-9
N 997
Small GWAS
multi-ancestry

fibronectin fragment 4 measurement

Allele C
OR 0.67
p 2.0e-42
N 997
Small GWAS
multi-ancestry

systolic blood pressure

Allele C
OR 0.02
p 3.0e-17
N 1,212,859
Large GWAS
European

myocardial infarction

Sakaue S et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.07
p 7.0e-9
N 623,029
Large GWAS
multi-ancestry

blood protein amount

Allele C
OR 0.17
p 4.0e-17
N 5,366
Large GWAS
European

ClinVar annotation

Benign★★★
2 submitters1 publication
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]

View all FN1 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…