Genetics Genetics Research
CHROMOSOME 22 COMT 22q11.21 GENE VIEW COMT · 22q11.21 22q10 22q12 rs9332377 — ~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 rs9332377 C / A · COMT · 22q11.21 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A C Cytosine — reference allele A Adenine — variant allele genetics.jdge.cc

rs9332377

Gene: COMT — Catechol-O-Methyltransferase Chr 22:19968169 22q11.21 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total C 0.830996T 0.169004CC 0.695088CT/TC 0.271816TT 0.033096pop=506,946 ↬
African C 0.6701T 0.3299CC 0.453748CT/TC 0.432704TT 0.113549pop=49,230
African American C 0.67126T 0.32874CC 0.455303CT/TC 0.431913TT 0.112784pop=47,542
African Others C 0.6374T 0.3626CC 0.409953CT/TC 0.454976TT 0.135071pop=1,688
Asian C 0.99221T 0.00779CC 0.984424CT/TC 0.015576TT 0pop=10,272
East Asian C 0.9978T 0.0022CC 0.995646CT/TC 0.004354TT 0pop=8,268
European C 0.843194T 0.156806CC 0.711741CT/TC 0.262905TT 0.025354pop=403,568
Latin American 1 C 0.8112T 0.1888CC 0.656364CT/TC 0.309753TT 0.033883pop=8,736
Latin American 2 C 0.9044T 0.0956CC 0.817947CT/TC 0.172907TT 0.009146pop=18,588
Other C 0.83822T 0.16178CC 0.70656CT/TC 0.263323TT 0.030117pop=15,274
Other Asian C 0.9691T 0.0309CC 0.938124CT/TC 0.061876TT 0pop=2,004
South Asian C 0.8623T 0.1377CC 0.748044CT/TC 0.228482TT 0.023474pop=1,278

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