Genetics Genetics Research
CHROMOSOME 22 COMT 22q11.21 GENE VIEW COMT · 22q11.21 22q10 22q12 rs165599 — ~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 rs165599 G / A · COMT · 22q11.21 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

rs165599

Gene: COMT — Catechol-O-Methyltransferase Chr 22:19969258 22q11.21 3 Prime UTR Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total G 0.356191A 0.643809GG 0.139493GA/AG 0.433396AA 0.427112pop=613,938 ↬
African G 0.67552A 0.32448GG 0.459836GA/AG 0.431364AA 0.1088pop=54,228
African American G 0.67232A 0.32768GG 0.455254GA/AG 0.434132AA 0.110615pop=52,362
African Others G 0.7653A 0.2347GG 0.588424GA/AG 0.353698AA 0.057878pop=1,866
Asian G 0.46972A 0.53028GG 0.219579GA/AG 0.500274AA 0.280146pop=10,930
East Asian G 0.4717A 0.5283GG 0.220323GA/AG 0.502693AA 0.276984pop=8,542
European G 0.309377A 0.690623GG 0.096048GA/AG 0.426657AA 0.477295pop=495,396
Latin American 1 G 0.4445A 0.5555GG 0.194835GA/AG 0.499325AA 0.305839pop=10,378
Latin American 2 G 0.4836A 0.5164GG 0.234008GA/AG 0.49918AA 0.266812pop=18,290
Other G 0.38786A 0.61214GG 0.160124GA/AG 0.45548AA 0.384396pop=16,150
Other Asian G 0.4627A 0.5373GG 0.216918GA/AG 0.491625AA 0.291457pop=2,388
South Asian G 0.4584A 0.5416GG 0.214102GA/AG 0.488676AA 0.297222pop=8,566

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