rs1169081

This variant is located in the CFAP251 gene.

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GWAS Catalog Trait Associations (2)

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

body mass index

Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)

Allele G

OR 0.01

p 2.0e-14

N 1,122,049

Large GWAS

European

Turcot V et al. “Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.” Nature Genetics 50(1):26-41 (2018)

Allele G

OR 0.01

p 3.0e-10

N 526,508

Large GWAS

multi-ancestry

systolic blood pressure

Surendran P et al. “Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.” Nature Genetics 52(12):1314-1332 (2020)

Allele T

OR 0.18

p 5.0e-9

N 810,865

Meta-analysisLarge GWAS

European

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ClinVar annotation

Benign

2 submitters

CFAP251-related disorder; Squamous cell carcinoma of the head and neck; Uterine carcinosarcoma

View on ClinVar →

About CFAP251

This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member appears to function in the determination of mean platelet volume (MPV), and polymorphisms in this gene have been associated with variance in MPV. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2011]