rs7170637

This is a protein-altering variant in the CYFIP1 gene.

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GWAS Catalog Trait Associations (5)

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

platelet component distribution width

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 0.03
p 5.0e-32
N 394,642
Large GWAS
European
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.03
p 1.0e-21
N 408,112
Large GWAS
European

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 0.01
p 7.0e-30
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian
Raghavan S et al. “A multi-population phenome-wide association study of genetically-predicted height in the Million Veteran Program.” Plos Genetics 18(6):e1010193 (2022)
Allele A
OR —
β 0.022
p 2.0e-8
N 235,398
Major Consortium StudyLarge GWAS
European

heel bone mineral density

Morris JA et al. “An atlas of genetic influences on osteoporosis in humans and mice.” Nature Genetics 51(2):258-266 (2019)
Allele G
OR 0.02
p 1.0e-12
N 426,824
Large GWAS
European

platelet volume

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 4.0e-12
N 394,642
Large GWAS
European

pulse pressure measurement

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 A
OR 0.12
p 1.0e-8
N 1,164,961
Meta-analysisLarge GWAS
European
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Research that mentions this SNP (1)

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Common variants in genes of the postsynaptic FMRP signalling pathway are risk factors for autism spectrum disorders
AssociationN=2,465Regina Waltes et al.(2014)· Human Genetics

Family-based association study of common variants in FMRP pathway genes identified two SNPs associated with autism spectrum disorder: rs7170637 in CYFIP1 (protective, OR 0.85, 95% CI 0.75-0.96, P=0.007) and rs25925 in CAMK4 (risk, OR 1.31, 95% CI 1.04-1.64, P=0.021) in meta-analysis of German, Autism Genome Project, and French cohorts (N>2,400 families/individuals). Functional analyses showed both variants alter splicing factor binding sites and increase alternative mRNA isoform expression.

Traits studied:Asperger SyndromeAtypical AutismAutism Spectrum DisordersEarly Childhood AutismPDD-NOS
PubMedDOIMetascience Observatory

About CYFIP1

This gene encodes a protein that regulates cytoskeletal dynamics and protein translation. The encoded protein is a component of the WAVE regulatory complex (WRC), which promotes actin polymerization. This protein also interacts with the synaptic functional regulator FMR1 protein and translation initiation factor 4E to inhibit protein translation. A large chromosomal deletion including this gene is associated with increased risk of schizophrenia and epilepsy in human patients. Reduced expression of this gene has been observed in various human cancers and the encoded protein may inhibit tumor invasion. [provided by RefSeq, Mar 2022]

View all CYFIP1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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