Genetics Genetics Research
CHROMOSOME 12 CACNA1C 12p13.33 GENE VIEW CACNA1C · 12p13.33 12p14 12p12 rs4141130 — ~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 rs4141130 T / A · CACNA1C · 12p13.33 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ T 5′ 3′ T HETEROZYGOUS 5′ 3′ T 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A T Thymine — reference allele A Adenine — variant allele genetics.jdge.cc

rs4141130

Gene: CACNA1C — Calcium Voltage-Gated Channel Subunit Alpha1 C Chr 12:1988550 12p13.33 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total T 0.68622C 0.31378TT 0.472458TC/CT 0.427523CC 0.100019pop=679,654 ↬
African T 0.70108C 0.29892TT 0.491926TC/CT 0.418316CC 0.089758pop=60,318
African American T 0.7009C 0.2991TT 0.491366TC/CT 0.419067CC 0.089567pop=58,258
African Others T 0.7063C 0.2937TT 0.507767TC/CT 0.397087CC 0.095146pop=2,060
Asian T 0.45431C 0.54569TT 0.209612TC/CT 0.489388CC 0.301pop=11,402
East Asian T 0.4521C 0.5479TT 0.206037TC/CT 0.492126CC 0.301837pop=9,144
European T 0.684608C 0.315392TT 0.468581TC/CT 0.432054CC 0.099365pop=551,422
Latin American 1 T 0.6932C 0.3068TT 0.479441TC/CT 0.427426CC 0.093133pop=9,728
Latin American 2 T 0.77869C 0.22131TT 0.607297TC/CT 0.342788CC 0.049915pop=19,954
Other T 0.68286C 0.31714TT 0.471174TC/CT 0.423379CC 0.105447pop=18,872
Other Asian T 0.4632C 0.5368TT 0.224092TC/CT 0.478299CC 0.297609pop=2,258
South Asian T 0.7851C 0.2149TT 0.626539TC/CT 0.317165CC 0.056296pop=7,958

Studies1

Unread Studies1 ▼
1

Genome-wide association study of smoking initiation and current smoking

Study ↗ PDF ↗
For the identification of genes associated with smoking initiation and current smoking, genome-wide association analyses were carried out in 3497 subjects. Significant genes that …

2009 · JM Vink, AB Smit, EJC de Geus, P Sullivan…

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.