Genetics Genetics Research
CHROMOSOME 12 CACNA1C 12p13.33 GENE VIEW CACNA1C · 12p13.33 12p14 12p12 rs2007044 — ~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 rs2007044 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

rs2007044

Gene: CACNA1C — Calcium Voltage-Gated Channel Subunit Alpha1 C Chr 12:2235794 12p13.33 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total A 0.58863G 0.41137AA 0.356317AG/GA 0.464626GG 0.179057pop=502,946 ↬
African A 0.24377G 0.75623AA 0.063908AG/GA 0.35972GG 0.576372pop=35,144
African American A 0.24636G 0.75364AA 0.065085AG/GA 0.362547GG 0.572368pop=34,048
African Others A 0.1633G 0.8367AA 0.027372AG/GA 0.271898GG 0.70073pop=1,096
Asian A 0.6805G 0.3195AA 0.467368AG/GA 0.426316GG 0.106316pop=7,600
East Asian A 0.6907G 0.3093AA 0.482824AG/GA 0.415712GG 0.101463pop=6,288
European A 0.61734G 0.38266AA 0.380825AG/GA 0.47303GG 0.146145pop=424,100
Latin American 1 A 0.5338G 0.4662AA 0.298525AG/GA 0.470501GG 0.230973pop=6,780
Latin American 2 A 0.56511G 0.43489AA 0.320403AG/GA 0.489405GG 0.190191pop=11,704
Other A 0.57589G 0.42411AA 0.343134AG/GA 0.465506GG 0.19136pop=12,176
Other Asian A 0.6319G 0.3681AA 0.393293AG/GA 0.477134GG 0.129573pop=1,312
South Asian A 0.5974G 0.4026AA 0.358324AG/GA 0.478133GG 0.163543pop=5,442

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