Genetics Genetics Research
CHROMOSOME 22 COMT 22q11.21 GENE VIEW COMT · 22q11.21 22q10 22q12 rs6269 — ~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 rs6269 A / G · COMT · 22q11.21 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ A 5′ 3′ A HETEROZYGOUS 5′ 3′ A 5′ 3′ G HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ G 5′ 3′ G A Adenine — reference allele G Guanine — variant allele genetics.jdge.cc

rs6269

Gene: COMT — Catechol-O-Methyltransferase Chr 22:19962429 22q11.21 2KB Upstream Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total A 0.616613G 0.383387AA 0.381654AG/GA 0.469917GG 0.148428pop=293,192 ↬
African A 0.61914G 0.38086AA 0.378797AG/GA 0.480693GG 0.14051pop=37,862
African American A 0.61946G 0.38054AA 0.379144AG/GA 0.480626GG 0.140231pop=36,440
African Others A 0.6111G 0.3889AA 0.369902AG/GA 0.482419GG 0.147679pop=1,422
Asian A 0.7033G 0.2967AA 0.498276AG/GA 0.410129GG 0.091595pop=9,280
East Asian A 0.7035G 0.2965AA 0.499197AG/GA 0.408507GG 0.092295pop=7,476
European A 0.604866G 0.395134AA 0.366608AG/GA 0.476517GG 0.156875pop=220,328
Latin American 1 A 0.6178G 0.3822AA 0.381364AG/GA 0.472943GG 0.145693pop=6,246
Latin American 2 A 0.75278G 0.24722AA 0.570484AG/GA 0.364601GG 0.064915pop=11,492
Other A 0.6216G 0.3784AA 0.389831AG/GA 0.463574GG 0.146595pop=6,726
Other Asian A 0.7029G 0.2971AA 0.494457AG/GA 0.416851GG 0.088692pop=1,804
South Asian A 0.6812G 0.3188AA 0.475358AG/GA 0.411765GG 0.112878pop=1,258

Studies0

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