rs143334143

This is a upstream gene variant variant in the CCHCR1 gene.

▶

GWAS Catalog Trait Associations (2)

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

COVID-19

Pairo-Castineira E et al. “GWAS and meta-analysis identifies 49 genetic variants underlying critical COVID-19.” Nature 617(7962):764-768 (2023)
Allele A
OR 1.20
p 8.0e-23
N 2,974,917
Meta-analysisLarge GWAS
multi-ancestry
Pairo-Castineira E et al. “Genetic mechanisms of critical illness in COVID-19.” Nature 591(7848):92-98 (2021)
Allele A
OR 1.30
p 2.0e-10
N 1,170,871
Large GWAS
multi-ancestry

respiratory failure, COVID-19

Degenhardt F et al. “Detailed stratified GWAS analysis for severe COVID-19 in four European populations.” Human Molecular Genetics 31(23):3945-3966 (2022)
Allele A
OR 1.29
p 2.0e-12
N 1,451,202
Large GWAS
European, NR

About CCHCR1

This gene encodes a protein with five coiled-coil alpha-helical rod domains that is thought to act as a regulator of mRNA metabolism through its interaction with mRNA-decapping protein 4. It localizes to P-bodies, the site of mRNA metabolism, with an N-terminus that is required for this subcellular localization, suggesting it is a P-body component. Naturally occurring mutations in this gene are associated with psoriasis. [provided by RefSeq, May 2017]

View all CCHCR1 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…