rs2860482

This variant is located in the NACA gene.

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GWAS Catalog Trait Associations (1)

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

atrial fibrillation

Miyazawa K et al. “Cross-ancestry genome-wide analysis of atrial fibrillation unveils disease biology and enables cardioembolic risk prediction.” Nature Genetics 55(2):187-197 (2023)
Allele C
OR 0.06
p 7.0e-19
N 2,339,188
Large GWAS
multi-ancestry
Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)
Allele C
OR 0.01
p 3.0e-12
N 1,486,094
Large GWAS
European
Nielsen JB et al. “Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.” Nature Genetics 50(9):1234-1239 (2018)
Allele C
OR 1.06
p 1.0e-12
N 1,030,836
Large GWAS
European
Cárcel-Márquez J et al. “A Polygenic Risk Score Based on a Cardioembolic Stroke Multitrait Analysis Improves a Clinical Prediction Model for This Stroke Subtype.” Frontiers in Cardiovascular Medicine 9:940696 (2022)
Allele C
OR 0.01
p 8.0e-12
N 1,030,836
Large GWAS
European
Roselli C et al. “Multi-ethnic genome-wide association study for atrial fibrillation.” Nature Genetics 50(9):1225-1233 (2018)
Allele C
OR 1.05
p 1.0e-9
N 588,190
Large GWAS
multi-ancestry

About NACA

This gene encodes a protein that associates with basic transcription factor 3 (BTF3) to form the nascent polypeptide-associated complex (NAC). This complex binds to nascent proteins that lack a signal peptide motif as they emerge from the ribosome, blocking interaction with the signal recognition particle (SRP) and preventing mistranslocation to the endoplasmic reticulum. This protein is an IgE autoantigen in atopic dermatitis patients. Alternative splicing results in multiple transcript variants, but the full length nature of some of these variants, including those encoding very large proteins, has not been determined. There are multiple pseudogenes of this gene on different chromosomes. [provided by RefSeq, Feb 2016]

View all NACA variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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