rs2296610

This variant is located in the NEBL gene.

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GWAS Catalog Trait Associations (2)

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

atrial fibrillation

Yuan S et al. “Cross-population GWAS and proteomics improve risk prediction and reveal mechanisms in atrial fibrillation.” Nature Communications 16(1):6426 (2025)
Allele T
OR 0.14
p 3.0e-24
N 2,584,013
Large GWAS
multi-ancestry
Roselli C et al. “Meta-analysis of genome-wide associations and polygenic risk prediction for atrial fibrillation in more than 180,000 cases.” Nature Genetics 57(3):539-547 (2025)
Allele T
OR 1.19
p 3.0e-21
N 1,650,345
Meta-analysisLarge GWAS
multi-ancestry
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.15
p 1.0e-8
N 589,441
Large GWAS
multi-ancestry
Low SK et al. “Identification of six new genetic loci associated with atrial fibrillation in the Japanese population.” Nature Genetics 49(6):953-958 (2017)
Allele T
OR 1.20
p 2.0e-14
N 36,792
Large GWAS
multi-ancestry

cardiac arrhythmia

Ishigaki K et al. “Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases.” Nature Genetics 52(7):669-679 (2020)
Allele T
OR 1.11
p 1.0e-9
N 212,453
Large GWAS
East Asian
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ClinVar annotation

Likely Benign★★★☆
7 submitters3 publications

not specified; Primary dilated cardiomyopathy; Cardiovascular phenotype; NEBL-related disorder; not provided

View on ClinVar →

About NEBL

This gene encodes a nebulin like protein that is abundantly expressed in cardiac muscle. The encoded protein binds actin and interacts with thin filaments and Z-line associated proteins in striated muscle. This protein may be involved in cardiac myofibril assembly. A shorter isoform of this protein termed LIM nebulette is expressed in non-muscle cells and may function as a component of focal adhesion complexes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

View all NEBL variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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