Genetics Genetics Research
CHROMOSOME 22 COMT 22q11.21 GENE VIEW COMT · 22q11.21 22q10 22q12 rs4646316 — ~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 rs4646316 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

rs4646316

Gene: COMT — Catechol-O-Methyltransferase Chr 22:19964609 22q11.21 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total C 0.770062T 0.229938CC 0.593674CT/TC 0.352777TT 0.05355pop=574,868 ↬
African C 0.80588T 0.19412CC 0.647766CT/TC 0.316224TT 0.03601pop=56,928
African American C 0.80541T 0.19459CC 0.647057CT/TC 0.316707TT 0.036237pop=54,972
African Others C 0.819T 0.181CC 0.667689CT/TC 0.302658TT 0.029652pop=1,956
Asian C 0.71804T 0.28196CC 0.517189CT/TC 0.401709TT 0.081102pop=10,530
East Asian C 0.7119T 0.2881CC 0.510146CT/TC 0.403492TT 0.086361pop=8,476
European C 0.762116T 0.237884CC 0.581089CT/TC 0.362056TT 0.056856pop=456,488
Latin American 1 C 0.7673T 0.2327CC 0.589928CT/TC 0.354766TT 0.055306pop=8,896
Latin American 2 C 0.84883T 0.15117CC 0.720295CT/TC 0.257063TT 0.022642pop=19,256
Other C 0.77636T 0.22364CC 0.604531CT/TC 0.343656TT 0.051813pop=16,598
Other Asian C 0.7434T 0.2566CC 0.546251CT/TC 0.394352TT 0.059396pop=2,054
South Asian C 0.8574T 0.1426CC 0.7372CT/TC 0.240441TT 0.022359pop=6,172

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