Genetics Genetics Research
CHROMOSOME 12 CACNA1C 12p13.33 GENE VIEW CACNA1C · 12p13.33 12p14 12p12 rs4765913 — ~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 rs4765913 A / T · CACNA1C · 12p13.33 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ A 5′ 3′ A HETEROZYGOUS 5′ 3′ A 5′ 3′ T HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ T 5′ 3′ T A Adenine — reference allele T Thymine — variant allele genetics.jdge.cc

rs4765913

Gene: CACNA1C — Calcium Voltage-Gated Channel Subunit Alpha1 C Chr 12:2310730 12p13.33 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total A 0.20384T 0.79616AA 0.045591AT/TA 0.316496TT 0.637913pop=90,238 ↬
African A 0.089T 0.911AA 0.009122AT/TA 0.159799TT 0.831079pop=6,358
African American A 0.09T 0.91AA 0.009511AT/TA 0.161036TT 0.829452pop=6,098
African Others A 0.065T 0.935AA 0AT/TA 0.130769TT 0.869231pop=260
Asian A 0.0388T 0.9612AA 0.001834AT/TA 0.073961TT 0.924205pop=3,272
East Asian A 0.037T 0.963AA 0.002268AT/TA 0.069539TT 0.928193pop=2,646
European A 0.22213T 0.77787AA 0.051245AT/TA 0.341761TT 0.606994pop=76,808
Latin American 1 A 0.164T 0.836AA 0.023166AT/TA 0.281853TT 0.694981pop=518
Latin American 2 A 0.1982T 0.8018AA 0.032143AT/TA 0.332143TT 0.635714pop=1,120
Other A 0.1449T 0.8551AA 0.027601AT/TA 0.234607TT 0.737792pop=1,884
Other Asian A 0.046T 0.954AA 0AT/TA 0.092652TT 0.907348pop=626
South Asian A 0.216T 0.784AA 0.05036AT/TA 0.330935TT 0.618705pop=278

Studies0

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