rs7961894

This is a regulatory region variant variant 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.

platelet volume

Gieger C et al. “New gene functions in megakaryopoiesis and platelet formation.” Nature 480(7376):201-8 (2011)
Allele A
OR 0.03
p 1.0e-103
N 18,600
Large GWAS
European
Khader Shameer et al. “A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects” Human Genetics (2014)
Allele A
OR 0.31
p 6.0e-38
N 6,291
Large GWAS
European
Read RW et al. “GWAS and PheWAS of red blood cell components in a Northern Nevadan cohort.” Plos One 14(6):e0218078 (2019)
Allele A
OR 0.22
p 3.0e-11
N 4,675
Large GWAS
multi-ancestry
Soranzo N et al. “A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.” Nature Genetics 41(11):1182-90 (2009)
Allele A
OR 0.03
p 3.0e-44
N 4,627
Meta-analysisMajor Consortium Study
European
Meisinger C et al. “A genome-wide association study identifies three loci associated with mean platelet volume.” American Journal of Human Genetics 84(1):66-71 (2009)
Allele A
OR 0.03
p 7.0e-48
N 1,606
Large GWAS
European

platelet count

Gieger C et al. “New gene functions in megakaryopoiesis and platelet formation.” Nature 480(7376):201-8 (2011)
Allele C
OR 3.92
p 1.0e-10
N 48,666
Large GWAS
European
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Research that mentions this SNP (1)

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A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects
AssociationN=13,582Khader Shameer et al.(2014)· Human Genetics

A genome-wide association study (GWAS) of platelet count (PLT) and mean platelet volume (MPV) in 13,582 and 6,291 participants respectively from the eMERGE network identified 5 chromosomal regions associated with PLT and 8 with MPV at genome-wide significance (P<5E-8). Key findings include variants in ARHGEF3 (rs1354034, P=6E-24 for PLT; P=9E-34 for MPV), SH2B3 (rs3184504, P=5E-12), and multiple other loci. The study replicated 20 SNPs for PLT and 22 for MPV from prior meta-analyses and demonstrated pleiotropic effects with myocardial infarction, autoimmune, and hematologic disorders through phenome-wide association study (PheWAS).

Traits studied:Autoimmune disordersBlood pressureEosinophil countHematologic disordersMean platelet volume (MPV)Myocardial infarctionPlatelet count (PLT)Type 1 diabetes
PubMedDOIMetascience Observatory

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]

View all CFAP251 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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