CHROMOSOME 12 CACNA1C 12p13.33 GENE VIEW CACNA1C · 12p13.33 12p14 12p12 rs2302729 — ~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 rs2302729 T / C · CACNA1C · 12p13.33 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ T 5′ 3′ T HETEROZYGOUS 5′ 3′ T 5′ 3′ C HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ C 5′ 3′ C T Thymine — reference allele C Cytosine — variant allele genetics.jdge.cc

rs2302729

Gene: CACNA1C — Calcium Voltage-Gated Channel Subunit Alpha1 C Chr 12:2674806 12p13.33 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total T 0.208137C 0.791863TT 0.056089TC/CT 0.304095CC 0.639816pop=645,470
African T 0.55108C 0.44892TT 0.310142TC/CT 0.481875CC 0.207984pop=51,254
African American T 0.54831C 0.45169TT 0.306906TC/CT 0.482806CC 0.210288pop=49,494
African Others T 0.629C 0.371TT 0.401136TC/CT 0.455682CC 0.143182pop=1,760
Asian T 0.37688C 0.62312TT 0.138231TC/CT 0.477293CC 0.384476pop=11,054
East Asian T 0.3872C 0.6128TT 0.1426TC/CT 0.489204CC 0.368196pop=8,892
European T 0.169033C 0.830967TT 0.02922TC/CT 0.279626CC 0.691154pop=532,246
Latin American 1 T 0.303C 0.697TT 0.09118TC/CT 0.423592CC 0.485228pop=9,410
Latin American 2 T 0.2328C 0.7672TT 0.059493TC/CT 0.346619CC 0.593888pop=17,212
Other T 0.23886C 0.76114TT 0.068505TC/CT 0.340702CC 0.590793pop=16,466
Other Asian T 0.3344C 0.6656TT 0.120259TC/CT 0.428307CC 0.451434pop=2,162
South Asian T 0.1504C 0.8496TT 0.027849TC/CT 0.245018CC 0.727133pop=7,828

Studies16

Unread Studies16
1
… While the T-allele of variant rs2302729 of CACNA1C was associated with both, self-reported EMF sensitivity and reduced subjective sleep quality, we found no evidence for the …
2
Numerous genome-wide association studies have identified CACNA1C as one of the top risk genes for schizophrenia. As a necessary post-genome-wide association study (…
3
Increasing incidences of insomnia in adults, as well as the aging population, have been reported for their negative impact on the quality of life. Insomnia episodes may be associated …
4
Duchenne muscular dystrophy (DMD) is a progressive muscle degenerative disorder with a well-characterized disease phenotype but considerable …
5
Genome-wide association studies have identified a significant risk gene, CACNA1C, for schizophrenia. In this study, we comprehensively investigated a large set of …
6
… In this study, only the recessive model of rs2302729 was found … rs2302729 and rs1051375 constituted a closely linkage disequilibrium block (Figure 1 and Table 6), and the rs2302729-…
7
… Difficulties in falling asleep with early morning awakenings showed also an association with rs2302729 that was previously associated with sleep quality and latency [4]. This SNP is …
8
Sleep disturbances and insomnia are prevalent, with around 33% of adults indicating that they experience at least one main symptom of insomnia, and bidirectional relationships exist …
9
Sleep paralysis is a relatively common but under‐researched phenomenon. In this paper we examine prevalence in a UK sample and associations with candidate risk factors. This is …
10
Late-onset Alzheimer’s disease (LOAD) is known to have a complex, oligogenic etiology, with considerable genetic heterogeneity. We investigated the influence of genetic interactions …
11
The advancement of in vivo imaging modalities that detect the neuropathologies associated with both Down Syndrome and Alzheimer’s Disease present new opportunities to explore …
12
Sleep is a critical behavior shared by most higher animals. Sleep disturbances are comorbid with numerous psychiatric disorders, most notably symptoms of depression. Twin studies …
13
Several aspects of sleep behavior such as timing, duration and quality have been demonstrated to be heritable. To identify common variants that influence sleep traits in the population, …
14
… The T allele of CACNA1C rs2302729 was associated with both reduced subjective sleep quality and self-reported EMF sensitivity. Habitual mobile-phone use was not associated with …
15
The purpose of this study is to attempt to replicate the top single nucleotide polymorphism (SNP) associations from a previous genome-wide association study (GWAS) for the …
16
Sleep paralysis is a relatively common but under-‐researched phenomenon. In this paper we examine prevalence in a UK sample and associations with candidate risk factors. This is …
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.