Genetics Genetics Research
CHROMOSOME 12 CACNA1C 12p13.33 GENE VIEW CACNA1C · 12p13.33 12p14 12p12 rs4765905 — ~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 rs4765905 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

rs4765905

Gene: CACNA1C — Calcium Voltage-Gated Channel Subunit Alpha1 C Chr 12:2240418 12p13.33 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total G 0.67161C 0.32839GG 0.457557GC/CG 0.428105CC 0.114339pop=89,366 ↬
African G 0.5322C 0.4678GG 0.288016GC/CG 0.488419CC 0.223565pop=5,958
African American G 0.534C 0.466GG 0.288414GC/CG 0.491075CC 0.220511pop=5,714
African Others G 0.492C 0.508GG 0.278689GC/CG 0.42623CC 0.295082pop=244
Asian G 0.9469C 0.0531GG 0.895541GC/CG 0.102627CC 0.001833pop=3,274
East Asian G 0.9456C 0.0544GG 0.893505GC/CG 0.10423CC 0.002266pop=2,648
European G 0.66742C 0.33258GG 0.447184GC/CG 0.440477CC 0.11234pop=76,340
Latin American 1 G 0.685C 0.315GG 0.494208GC/CG 0.382239CC 0.123552pop=518
Latin American 2 G 0.7268C 0.2732GG 0.526786GC/CG 0.4CC 0.073214pop=1,120
Other G 0.7583C 0.2417GG 0.588924GC/CG 0.338658CC 0.072417pop=1,878
Other Asian G 0.952C 0.048GG 0.904153GC/CG 0.095847CC 0pop=626
South Asian G 0.734C 0.266GG 0.546763GC/CG 0.374101CC 0.079137pop=278

Studies0

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