rs11062170

This is a intron variant variant in the CACNA1C gene.

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GWAS Catalog Trait Associations (3)

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

bipolar I disorder

Mullins N et al. “Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology.” Nature Genetics 53(6):817-829 (2021)
Allele G
OR 0.91
p 2.0e-16
N 475,038
Large GWAS
European

bipolar disorder

Mullins N et al. “Genome-wide association study of more than 40,000 bipolar disorder cases provides new insights into the underlying biology.” Nature Genetics 53(6):817-829 (2021)
Allele G
OR 0.93
p 2.0e-15
N 413,466
Large GWAS
European

major depressive disorder

Als TD et al. “Depression pathophysiology, risk prediction of recurrence and comorbid psychiatric disorders using genome-wide analyses.” Nature Medicine 29(7):1832-1844 (2023)
Allele G
OR 0.02
p 1.0e-8
N 1,349,887
Large GWAS
European

About CACNA1C

This gene encodes an alpha-1 subunit of a voltage-dependent calcium channel. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization. The alpha-1 subunit consists of 24 transmembrane segments and forms the pore through which ions pass into the cell. The calcium channel consists of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. There are multiple isoforms of each of these proteins, either encoded by different genes or the result of alternative splicing of transcripts. The protein encoded by this gene binds to and is inhibited by dihydropyridine. Alternative splicing results in many transcript variants encoding different proteins. Some of the predicted proteins may not produce functional ion channel subunits. [provided by RefSeq, Oct 2012]

View all CACNA1C variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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