Genetics Genetics Research
CHROMOSOME 12 CACNA1C 12p13.33 GENE VIEW CACNA1C · 12p13.33 12p14 12p12 rs7312105 — ~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 rs7312105 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

rs7312105

Gene: CACNA1C — Calcium Voltage-Gated Channel Subunit Alpha1 C Chr 12:2414189 12p13.33 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total A 0.647958G 0.352042AA 0.423897AG/GA 0.448123GG 0.12798pop=273,746 ↬
African A 0.76285G 0.23715AA 0.580302AG/GA 0.365103GG 0.054595pop=36,450
African American A 0.76207G 0.23793AA 0.579251AG/GA 0.365647GG 0.055101pop=34,990
African Others A 0.7815G 0.2185AA 0.605479AG/GA 0.352055GG 0.042466pop=1,460
Asian A 0.6659G 0.3341AA 0.446405AG/GA 0.439035GG 0.11456pop=8,956
East Asian A 0.669G 0.331AA 0.450626AG/GA 0.436718GG 0.112656pop=7,190
European A 0.635113G 0.364887AA 0.405137AG/GA 0.459952GG 0.13491pop=211,948
Latin American 1 A 0.6354G 0.3646AA 0.404571AG/GA 0.461714GG 0.133714pop=3,500
Latin American 2 A 0.455G 0.545AA 0.201716AG/GA 0.506641GG 0.291644pop=7,228
Other A 0.6242G 0.3758AA 0.389884AG/GA 0.468666GG 0.14145pop=4,468
Other Asian A 0.6535G 0.3465AA 0.429219AG/GA 0.448471GG 0.12231pop=1,766
South Asian A 0.5794G 0.4206AA 0.339465AG/GA 0.479933GG 0.180602pop=1,196

Studies3

Unread Studies3 ▼
1

Parallel functional testing identifies enhancers active in early postnatal mouse brain

Study ↗ PDF ↗
Enhancers are cis-regulatory elements that play critical regulatory roles in modulating developmental transcription programs and driving cell-type-specific and context-dependent gene …

2021 · JT Lambert, L Su-Feher, K Cichewicz, TL Warren…

2

Brain Development Through the Lens of Genomic and Epigenomic Regulators

Study ↗ PDF ↗
The brain is one of the most complex organs of the mammalian body, with hundreds of unique cell types and functionalities that are specified across developmental time. Numerous …

2020 · L Su

3

A powerful approach to test an optimally weighted combination of rare variants in admixed populations

Study ↗ PDF ↗
Population stratification has long been recognized as an issue in genetic association studies because unrecognized population stratification can lead to both false‐positive and false‐…

2015 · X Wang, S Zhang, Y Li, M Li, Q Sha

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.

No curated studies yet.

Unused Studies0 ▼

No unused studies.