CHROMOSOME 12 CACNA1C 12p13.33 GENE VIEW CACNA1C · 12p13.33 12p14 12p12 rs2239063 — ~70,000 base pairs in the gene — ~14,000 uncommon variants · <1% of humans have them — ~1,000 common variants · >1% carry the alternate allele ALLELE STATE rs2239063 A / C · CACNA1C · 12p13.33 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ A 5′ 3′ A HETEROZYGOUS 5′ 3′ A 5′ 3′ C HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ C 5′ 3′ C A Adenine — reference allele C Cytosine — variant allele genetics.jdge.cc

rs2239063

Gene: CACNA1C — Calcium Voltage-Gated Channel Subunit Alpha1 C Chr 12:2402665 12p13.33 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total A 0.745642C 0.254358AA 0.560788AC/CA 0.369709CC 0.069503pop=254,146
African A 0.91872C 0.08128AA 0.844629AC/CA 0.148178CC 0.007193pop=34,202
African American A 0.91711C 0.08289AA 0.841587AC/CA 0.151052CC 0.007361pop=32,876
African Others A 0.9585C 0.0415AA 0.92006AC/CA 0.076923CC 0.003017pop=1,326
Asian A 0.7163C 0.2837AA 0.511202AC/CA 0.410224CC 0.078574pop=6,338
East Asian A 0.7193C 0.2807AA 0.516006AC/CA 0.406631CC 0.077363pop=5,248
European A 0.719366C 0.280634AA 0.517832AC/CA 0.403068CC 0.0791pop=199,748
Latin American 1 A 0.7652C 0.2348AA 0.588962AC/CA 0.352554CC 0.058484pop=2,428
Latin American 2 A 0.6662C 0.3338AA 0.430779AC/CA 0.470898CC 0.098323pop=6,082
Other A 0.7433C 0.2567AA 0.553903AC/CA 0.378769CC 0.067328pop=4,842
Other Asian A 0.7018C 0.2982AA 0.488073AC/CA 0.427523CC 0.084404pop=1,090
South Asian A 0.67C 0.33AA 0.44664AC/CA 0.44664CC 0.106719pop=506

Studies23

Unread Studies23
1
Prognostic biomarkers and precision psychiatry: A review of the available evidence
2
Insomnia is a stress‐related sleep disorder conceptualised within a diathesis‐stress framework, which it is thought to result from predisposing factors interacting with precipitating …
3
Pharmacogenomics focuses on individualizing the dose of a prescribed drug treatment to achieve low therapeutic indices or minimal adverse reactions. The implementation of genetic …
4
Developing a more comprehensive understanding of the physiological underpinnings of mental illness, precision medicine has the potential to revolutionize psychiatric care. With recent …
5
Mental illness constitutes a healthcare crisis of enormous proportions, and affects millions worldwide, leading to clinical and economic affliction. Patients respond to antipsychotics, …
6
… genetic risk status for schizophrenia in CACNA1C rs2239063 A > C and five KCNH2 SNPs in … in patients carrying CACNA1C rs2284274 C and rs2239063 C allele. QTvi is a normalized …
7
Recent genome‐wide association studies of mood instability (MOOD) have found significant positive genetic correlation with major depression (DEP) and weak correlations with other …
8
Mood instability (MOOD) is a transdiagnostic phenomenon with a prominent neurobiological basis. Recent genome-wide association studies found significant positive …
9
Es konnte hierbei keine signifikante Korrelation des Pathway-spezifischen polygenen Risikoscores mit dem oberflächenbasierten hirnmorphometrischen Parameter Gyrifizierung sowie …
10
Clinical symptom response to antipsychotic medications is highly variable. Genome-wide association studies (GWAS) provide a ‘hypothesis-free’ method of interrogating the genome for …
11
… They examined 2413 patients, together with a validation cohort of 1379 patients, and found that the rs2239063 in CACNA1C was associated with treatment response to olanzapine. …
12
Bipolar Disorder is a widely known psychiatric disorder with an onset in adolescence or early adulthood. Also known as manic-depressive illness, bipolar disorder is one of the most …
13
Gene coexpression networks are relevant to functional and clinical translation of schizophrenia risk genes. We hypothesized that schizophrenia risk genes converge into …
14
Bipolar Disorder (BD) is a disease that causes unusual shifts in mood, energy, activity levels and the ability to carry out daily tasks. BD is a complex disorder in which several factors may …
15
… In antipsychotic-specific groups, after the combination of results from both samples, the rs2239063 SNP in CACNA1C was associated with treatment response to olanzapine (p=1·10 × …
16
Despite advances in sequencing candidate genes and whole genomes, no method has accurately predicted who will or will not benefit from a specific antipsychotic medication among …
17
Although we are beginning to understand the neuronal and biochemical nature of sleep regulation, questions remain about how sleep is homeostatically regulated. Beyond its …
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… rs2239063 were associated with sleep latency. The minor … Finally, in our study the major allele A of rs2239063 was … and rs2239063) and TCC (rs4765913, rs4765914 and rs2239063) …
19
With> 100 common variants associated with schizophrenia risk, establishing their biological significance is a priority. We sought to establish cognitive effects of risk variants at loci …
20
… , rs4765914, and rs2239063 were associated with sleep latency… Finally, in our study the major allele A of rs2239063 was … rs2239063) and TCC (rs4765913, rs4765914 and rs2239063) …
21
The majority of variants identified by genome-‐wide association studies(GWAS) reside in the noncoding genome, where they affect regulatory elements including transcriptional …
22
The Schizophrenia Working Group of the Psychiatric Genomics Consortium (PGC) identified 108 loci associated with schizophrenia, but their role in modulating specific …
23
Schizophrenia is a complex, highly polygenic brain disorder. Cognitive deficits in schizophrenia are among the most disabling symptoms, and as of yet, have no effective treatment. …
Curated Studies0

These studies were determined to be useful for this variant — check "Unused Studies" further down if curious what didn't make the cut.

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Unused Studies0

No unused studies.