CHROMOSOME 12 CACNA1C 12p13.33 GENE VIEW CACNA1C · 12p13.33 12p14 12p12 rs216013 — ~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 rs216013 A / G · CACNA1C · 12p13.33 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ A 5′ 3′ A HETEROZYGOUS 5′ 3′ A 5′ 3′ G HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ G 5′ 3′ G A Adenine — reference allele G Guanine — variant allele genetics.jdge.cc

rs216013

Gene: CACNA1C — Calcium Voltage-Gated Channel Subunit Alpha1 C Chr 12:2620466 12p13.33 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total A 0.836936G 0.163064AA 0.702107AG/GA 0.269657GG 0.028235pop=783,624
African A 0.78209G 0.21791AA 0.611639AG/GA 0.340895GG 0.047466pop=69,734
African American A 0.78311G 0.21689AA 0.613364AG/GA 0.339484GG 0.047152pop=67,314
African Others A 0.7537G 0.2463AA 0.563636AG/GA 0.380165GG 0.056198pop=2,420
Asian A 0.69662G 0.30338AA 0.486402AG/GA 0.420437GG 0.093161pop=17,282
East Asian A 0.68982G 0.31018AA 0.475038AG/GA 0.429556GG 0.095406pop=13,060
European A 0.85018G 0.14982AA 0.723487AG/GA 0.253386GG 0.023127pop=624,564
Latin American 1 A 0.80824G 0.19176AA 0.653AG/GA 0.310473GG 0.036526pop=10,732
Latin American 2 A 0.79912G 0.20088AA 0.641229AG/GA 0.315779GG 0.042991pop=20,888
Other A 0.81464G 0.18536AA 0.664393AG/GA 0.300493GG 0.035114pop=31,668
Other Asian A 0.7177G 0.2823AA 0.521554AG/GA 0.392231GG 0.086215pop=4,222
South Asian A 0.812G 0.188AA 0.665144AG/GA 0.293741GG 0.041115pop=8,756

Studies11

Unread Studies11
1
… The results presented above have demonstrated an association between CACNAC1 (rs216013) and warfarin sensitivity during maintenance phase. CACNAC1 gene is a membrane …
2
New drug development costs between 500 million and 2 billion dollars and takes 10-15 years, with a success rate of less than 10%. Drug repurposing (defined as discovering new …
3
To predict drug-induced serious adverse events (SAE) in clinical trials, a model using a panel of cells derived from human induced pluripotent stem cells (hiPSCs) of individuals with …
4
… rs216013 are the SRE-disrupting alleles. The SNPs are in strong LD (r 2 = 0.868 in EUR) and rs216013 … Rs2239121 is population-differentiated, but the reported variant rs216013 is not (…
5
… Because this SNP is in very low linkage disequilibrium with rs4765913 (r 2 =0.012), the potential association of rs216013 with cardiac dysrhythmias does not constitute replication of the …
6
… One exception was rs216013 in the intron of CACNA1C on chromosome 12, which reached a p value of 8.6 × 10 −7 in the joint analysis, with a p value of 9.2 × 10 −5 in the discovery set…
7
Bien que plusieurs algorithmes pharmacogénétiques de prédiction de doses de warfarine aient été publiés, peu d’études ont comparé la validité de ces algorithmes …
8
Antidepressants and antipsychotics may affect several ion channels involved in the control of cardiac action potential and be proarrhythmic. In this field, accurate understanding of …
9
… Analysis of the full list of replication SNPs (355 total) after combining the index and replication panels identified one potentially interesting variant, rs216013, located within an intron of a …
10
To predict drug-induced serious adverse events (SAE) in clinical trials, a model using a panel of cells derived from human induced pluripotent stem cells (hiPSCs) of individuals with …
11
Results from large-scale phenome-wide association studies (PheWAS) allow association of genetic variants with a wide spectrum of human disorders and have provided …
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.