Genetics Genetics Research
CHROMOSOME 22 COMT 22q11.21 GENE VIEW COMT · 22q11.21 22q10 22q12 rs737866 — ~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 rs737866 T / A · COMT · 22q11.21 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ T 5′ 3′ T HETEROZYGOUS 5′ 3′ T 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A T Thymine — reference allele A Adenine — variant allele genetics.jdge.cc

rs737866

Gene: COMT — Catechol-O-Methyltransferase Chr 22:19942586 22q11.21 2KB Upstream Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total T 0.733561C 0.266439TT 0.541676TC/CT 0.383768CC 0.074555pop=670,644 ↬
African T 0.85555C 0.14445TT 0.733199TC/CT 0.244712CC 0.022089pop=55,412
African American T 0.85433C 0.14567TT 0.731201TC/CT 0.246255CC 0.022543pop=53,408
African Others T 0.8882C 0.1118TT 0.786427TC/CT 0.203593CC 0.00998pop=2,004
Asian T 0.73885C 0.26115TT 0.550437TC/CT 0.376822CC 0.072741pop=13,720
East Asian T 0.73206C 0.26794TT 0.54067TC/CT 0.382775CC 0.076555pop=10,868
European T 0.716997C 0.283003TT 0.515662TC/CT 0.40267CC 0.081668pop=547,262
Latin American 1 T 0.7661C 0.2339TT 0.586279TC/CT 0.359638CC 0.054082pop=9,504
Latin American 2 T 0.8284C 0.1716TT 0.689432TC/CT 0.277934CC 0.032635pop=18,508
Other T 0.7468C 0.2532TT 0.564576TC/CT 0.36444CC 0.070983pop=17,638
Other Asian T 0.7647C 0.2353TT 0.587658TC/CT 0.354137CC 0.058205pop=2,852
South Asian T 0.7259C 0.2741TT 0.534884TC/CT 0.382093CC 0.083023pop=8,600

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