Genetics Genetics Research
CHROMOSOME 22 COMT 22q11.21 GENE VIEW COMT · 22q11.21 22q10 22q12 rs2239393 — ~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 rs2239393 A / G · COMT · 22q11.21 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

rs2239393

Gene: COMT — Catechol-O-Methyltransferase Chr 22:19962905 22q11.21 2KB Upstream Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total A 0.604969G 0.395031AA 0.367209AG/GA 0.47552GG 0.157271pop=610,464 ↬
African A 0.58587G 0.41413AA 0.341862AG/GA 0.488022GG 0.170115pop=52,682
African American A 0.58616G 0.41384AA 0.342301AG/GA 0.487709GG 0.16999pop=50,850
African Others A 0.5781G 0.4219AA 0.329694AG/GA 0.496725GG 0.173581pop=1,832
Asian A 0.70041G 0.29959AA 0.490646AG/GA 0.419522GG 0.089831pop=10,798
East Asian A 0.7022G 0.2978AA 0.494682AG/GA 0.415032GG 0.090286pop=8,462
European A 0.598107G 0.401893AA 0.357942AG/GA 0.480329GG 0.161728pop=493,828
Latin American 1 A 0.6066G 0.3934AA 0.371924AG/GA 0.469292GG 0.158785pop=9,346
Latin American 2 A 0.74181G 0.25819AA 0.55181AG/GA 0.380009GG 0.068182pop=18,568
Other A 0.6315G 0.3685AA 0.403347AG/GA 0.456306GG 0.140347pop=16,730
Other Asian A 0.6939G 0.3061AA 0.476027AG/GA 0.435788GG 0.088185pop=2,336
South Asian A 0.6478G 0.3522AA 0.426222AG/GA 0.443139GG 0.130639pop=8,512

Studies0

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