rs169235

This variant is located in the CACNA1E gene.

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GWAS Catalog Trait Associations (3)

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

neuroticism measurement

Luciano M et al. “Association analysis in over 329,000 individuals identifies 116 independent variants influencing neuroticism.” Nature Genetics 50(1):6-11 (2018)

Allele A

OR 7.22

p 5.0e-13

N 329,821

Large GWAS

European

major depressive disorder

Howard DM et al. “Genome-wide meta-analysis of depression identifies 102 independent variants and highlights the importance of the prefrontal brain regions.” Nature Neuroscience 22(3):343-352 (2019)

Allele G

OR 1.02

p 2.0e-11

N 807,553

Meta-analysisLarge GWAS

European

post-traumatic stress disorder

Nievergelt CM et al. “Genome-wide association analyses identify 95 risk loci and provide insights into the neurobiology of post-traumatic stress disorder.” Nature Genetics 56(5):792-808 (2024)

Allele A

OR 6.51

p 8.0e-11

N 1,280,933

Large GWAS

multi-ancestry

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ClinVar annotation

Benign★☆☆☆

1 submitter

View on ClinVar →

About CACNA1E

Voltage-dependent calcium channels are multisubunit complexes consisting of alpha-1, alpha-2, beta, and delta subunits in a 1:1:1:1 ratio. These channels mediate the entry of calcium ions into excitable cells, and are also involved in a variety of calcium-dependent processes, including muscle contraction, hormone or neurotransmitter release, gene expression, cell motility, cell division and cell death. This gene encodes the alpha-1E subunit of the R-type calcium channels, which belong to the 'high-voltage activated' group that maybe involved in the modulation of firing patterns of neurons important for information processing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Apr 2011]