rs62617115

This variant is located in the CTTNBP2 gene.

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GWAS Catalog Trait Associations (1)

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

FEV/FVC ratio

Shrine N et al. “Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk.” Nature Genetics 55(3):410-422 (2023)

Allele A

OR 6.02

p 2.0e-9

N 588,452

Large GWAS

multi-ancestry

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ClinVar annotation

Benign

1 submitter

CTTNBP2-related disorder

View on ClinVar →

About CTTNBP2

This gene encodes a protein with six ankyrin repeats and several proline-rich regions. A similar gene in rat interacts with a central regulator of the actin cytoskeleton. [provided by RefSeq, Jul 2008]

View all CTTNBP2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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