Genetics Genetics Research
CHROMOSOME 22 COMT 22q11.21 GENE VIEW COMT · 22q11.21 22q10 22q12 rs933271 — ~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 rs933271 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

rs933271

Gene: COMT — Catechol-O-Methyltransferase Chr 22:19943884 22q11.21 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total T 0.686847C 0.313153TT 0.475065TC/CT 0.423564CC 0.101371pop=452,654 ↬
African T 0.5948C 0.4052TT 0.354986TC/CT 0.479626CC 0.165387pop=54,188
African American T 0.596C 0.404TT 0.356091TC/CT 0.479824CC 0.164085pop=52,290
African Others T 0.5616C 0.4384TT 0.324552TC/CT 0.474183CC 0.201264pop=1,898
Asian T 0.5479C 0.4521TT 0.301086TC/CT 0.493544CC 0.20537pop=9,758
East Asian T 0.5581C 0.4419TT 0.309068TC/CT 0.498084CC 0.192848pop=7,830
European T 0.714788C 0.285212TT 0.510807TC/CT 0.407962CC 0.081231pop=350,974
Latin American 1 T 0.6221C 0.3779TT 0.38907TC/CT 0.466047CC 0.144884pop=8,600
Latin American 2 T 0.53706C 0.46294TT 0.293537TC/CT 0.48705CC 0.219413pop=16,216
Other T 0.64978C 0.35022TT 0.424467TC/CT 0.450619CC 0.124914pop=11,624
Other Asian T 0.5062C 0.4938TT 0.268672TC/CT 0.475104CC 0.256224pop=1,928
South Asian T 0.6515C 0.3485TT 0.421947TC/CT 0.459042CC 0.119011pop=1,294

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