rs2159100

This is a intron variant variant in the CACNA1C gene.

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GWAS Catalog Trait Associations (1)

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

schizophrenia

Li Z et al. “Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia.” Nature Genetics 49(11):1576-1583 (2017)

Allele T

OR 1.10

p 3.0e-19

N 108,341

Large GWAS

multi-ancestry

Ikeda M et al. “Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect.” Schizophrenia Bulletin 45(4):824-834 (2019)

Allele T

OR 1.10

p 6.0e-18

N 122,624

Large GWAS

multi-ancestry

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ClinVar annotation

Benign★☆☆☆

1 submitter1 publication

Long QT syndrome (LQTS)

View on ClinVar →

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Research that mentions this SNP (1)

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Genetic Variation in CACNA1C Affects Brain Circuitries Related to Mental Illness

FunctionalN=722Kristin L. Bigos et al.(2010)· Archives of General Psychiatry

Functional neuroimaging and post-mortem brain expression analysis showing that the rs1006737 risk allele in CACNA1C (calcium channel gene) is associated with increased hippocampal activity during emotional memory encoding (p=0.001) and increased prefrontal cortex activity during working memory (p=2.8e-05), with increased CACNA1C mRNA expression (p=0.0017). Case-control analysis confirmed association with schizophrenia (OR=1.77, p=0.026). The findings suggest calcium channel dysfunction contributes to psychiatric genetic risk through altered brain circuit function.

Traits studied:Bipolar disorderEmotional processingSchizophreniaWorking memory

PubMed DOI Metascience Observatory

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]