Genetics Genetics Research
CHROMOSOME 22 COMT 22q11.21 GENE VIEW COMT · 22q11.21 22q10 22q12 rs6267 — ~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 rs6267 Alanine 72 → Threonine G / A · COMT · 22q11.21 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ G 5′ 3′ G HETEROZYGOUS 5′ 3′ G 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A G Guanine — reference allele A Adenine — variant allele genetics.jdge.cc

rs6267

Alanine 72 → Threonine Gene: COMT — Catechol-O-Methyltransferase Chr 22:19962740 22q11.21 2KB Upstream Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies11

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Total G 0.996513T 0.003487GG 0.993196GT/TG 0.006634TT 0.000171pop=503,800 ↬
African G 0.9993T 0.0007GG 0.998738GT/TG 0.001132TT 0.000131pop=45,952
African American G 0.99932T 0.00068GG 0.998779GT/TG 0.001085TT 0.000136pop=44,220
African Others G 0.9988T 0.0012GG 0.997691GT/TG 0.002309TT 0pop=1,732
Asian G 0.9392T 0.0608GG 0.883721GT/TG 0.110975TT 0.005304pop=9,804
East Asian G 0.9342T 0.0658GG 0.874383GT/TG 0.119583TT 0.006034pop=7,292
European G 0.998558T 0.001442GG 0.997131GT/TG 0.002855TT 0.000015pop=409,166
Latin American 1 G 0.9907T 0.0093GG 0.981389GT/TG 0.018611TT 0pop=4,406
Latin American 2 G 0.9767T 0.0233GG 0.954319GT/TG 0.044683TT 0.000999pop=8,012
Other G 0.98803T 0.01197GG 0.976608GT/TG 0.022853TT 0.000539pop=25,992
Other Asian G 0.9538T 0.0462GG 0.910828GT/TG 0.085987TT 0.003185pop=2,512

Studies0

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