rs35274388
This variant is located in the CHRNA1 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
late-onset myasthenia gravis
Chia R et al. “Identification of genetic risk loci and prioritization of genes and pathways for myasthenia gravis: a genome-wide association study.” Proceedings of the National Academy of Sciences of the United States of America 119(5) (2022)
Allele A
OR 1.86
p 1.0e-12
N 34,930
Large GWAS
European
Myasthenia gravis
Chia R et al. “Identification of genetic risk loci and prioritization of genes and pathways for myasthenia gravis: a genome-wide association study.” Proceedings of the National Academy of Sciences of the United States of America 119(5) (2022)
Allele A
OR 1.57
p 1.0e-9
N 38,243
Large GWAS
European
▶ClinVar annotation
Likely Benign★★★☆
2 submitters1 publicationAbout CHRNA1
The muscle acetylcholine receptor consiststs of 5 subunits of 4 different types: 2 alpha subunits and 1 each of the beta, gamma, and delta subunits. This gene encodes an alpha subunit that plays a role in acetlycholine binding/channel gating. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Nov 2012]
View all CHRNA1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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