Genetics Genetics Research
CHROMOSOME 12 CACNA1C 12p13.33 GENE VIEW CACNA1C · 12p13.33 12p14 12p12 rs1051375 — ~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 rs1051375 G / A · CACNA1C · 12p13.33 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ G 5′ 3′ G HETEROZYGOUS 5′ 3′ G 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A G Guanine — reference allele A Adenine — variant allele genetics.jdge.cc

rs1051375

Gene: CACNA1C — Calcium Voltage-Gated Channel Subunit Alpha1 C Chr 12:2679713 12p13.33 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total G 0.33579A 0.66421GG 0.135467GA/AG 0.400643AA 0.46389pop=95,182 ↬
African G 0.7331A 0.2669GG 0.547243GA/AG 0.371797AA 0.080959pop=9,758
African American G 0.7289A 0.2711GG 0.540381GA/AG 0.376956AA 0.082664pop=9,460
African Others G 0.869A 0.131GG 0.765101GA/AG 0.208054AA 0.026846pop=298
Asian G 0.379A 0.621GG 0.142308GA/AG 0.473077AA 0.384615pop=520
East Asian G 0.406A 0.594GG 0.149758GA/AG 0.512077AA 0.338164pop=414
European G 0.27496A 0.72504GG 0.077799GA/AG 0.394324AA 0.527877pop=65,682
Latin American 1 G 0.4575A 0.5425GG 0.215092GA/AG 0.484848AA 0.300059pop=3,366
Latin American 2 G 0.3077A 0.6923GG 0.091644GA/AG 0.432037AA 0.476319pop=5,194
Other G 0.32031A 0.67969GG 0.109947GA/AG 0.420732AA 0.469322pop=10,496
Other Asian G 0.274A 0.726GG 0.113208GA/AG 0.320755AA 0.566038pop=106
South Asian G 0.301A 0.699GG 0.096386GA/AG 0.409639AA 0.493976pop=166

Studies0

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No unused studies.