rs117949012

This variant is located in the CHRNE gene.

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GWAS Catalog Trait Associations (5)

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

sphingomyelin measurement

Tabassum R et al. “Genetic architecture of human plasma lipidome and its link to cardiovascular disease.” Nature Communications 10(1):4329 (2019)
Allele C
OR 0.68
p 4.0e-13
N 2,045
Large GWAS
European

level of Sphingomyelin (d42:2) in blood serum

Tabassum R et al. “Lipidome- and Genome-Wide Study to Understand Sex Differences in Circulatory Lipids.” Journal of the American Heart Association 11(19):e027103 (2022)
Allele C
OR 0.43
p 1.0e-11
N 4,642
Large GWAS
European

level of Sphingomyelin (d38:1) in blood serum

Tabassum R et al. “Lipidome- and Genome-Wide Study to Understand Sex Differences in Circulatory Lipids.” Journal of the American Heart Association 11(19):e027103 (2022)
Allele C
OR 0.48
p 3.0e-10
N 2,624
Large GWAS
European

level of Sphingomyelin (d34:0) in blood serum

Tabassum R et al. “Lipidome- and Genome-Wide Study to Understand Sex Differences in Circulatory Lipids.” Journal of the American Heart Association 11(19):e027103 (2022)
Allele C
OR 0.61
p 4.0e-11
N 2,624
Large GWAS
European

level of Sphingomyelin (d40:1) in blood serum

Tabassum R et al. “Lipidome- and Genome-Wide Study to Understand Sex Differences in Circulatory Lipids.” Journal of the American Heart Association 11(19):e027103 (2022)
Allele C
OR 0.76
p 6.0e-24
N 2,624
Large GWAS
European
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ClinVar annotation

Likely Benign★★★☆
2 submitters1 publication
View on ClinVar →

About CHRNE

Acetylcholine receptors at mature mammalian neuromuscular junctions are pentameric protein complexes composed of four subunits in the ratio of two alpha subunits to one beta, one epsilon, and one delta subunit. The acetylcholine receptor changes subunit composition shortly after birth when the epsilon subunit replaces the gamma subunit seen in embryonic receptors. Mutations in the epsilon subunit are associated with congenital myasthenic syndrome. [provided by RefSeq, Sep 2009]

View all CHRNE variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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