Genetics Genetics Research
CHROMOSOME 12 CACNA1C 12p13.33 GENE VIEW CACNA1C · 12p13.33 12p14 12p12 rs1006737 — ~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 rs1006737 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

rs1006737

Gene: CACNA1C — Calcium Voltage-Gated Channel Subunit Alpha1 C Chr 12:2236129 12p13.33 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total G 0.667726A 0.332274GG 0.450845GA/AG 0.433762AA 0.115393pop=568,736 ↬
African G 0.52846A 0.47154GG 0.278184GA/AG 0.500552AA 0.221263pop=57,940
African American G 0.53005A 0.46995GG 0.279509GA/AG 0.501091AA 0.2194pop=55,898
African Others G 0.4848A 0.5152GG 0.24192GA/AG 0.485798AA 0.272282pop=2,042
Asian G 0.93471A 0.06529GG 0.873824GA/AG 0.121778AA 0.004397pop=16,374
East Asian G 0.94375A 0.05625GG 0.891403GA/AG 0.104689AA 0.003908pop=12,284
European G 0.669547A 0.330453GG 0.448665GA/AG 0.441765AA 0.10957pop=437,418
Latin American 1 G 0.6857A 0.3143GG 0.472257GA/AG 0.42686AA 0.100883pop=9,516
Latin American 2 G 0.73608A 0.26392GG 0.540299GA/AG 0.391555AA 0.068146pop=17,668
Other G 0.71674A 0.28326GG 0.524305GA/AG 0.38487AA 0.090825pop=25,962
Other Asian G 0.9076A 0.0924GG 0.821027GA/AG 0.173105AA 0.005868pop=4,090
South Asian G 0.7325A 0.2675GG 0.539139GA/AG 0.386729AA 0.074132pop=3,858

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