Genetics Genetics Research
CHROMOSOME 22 COMT 22q11.21 GENE VIEW COMT · 22q11.21 22q10 22q12 rs4680 — ~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 rs4680 Valine 158 → Methionine 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

rs4680

Valine 158 → Methionine Gene: COMT — Catechol-O-Methyltransferase Chr 22:19963748 22q11.21 2KB Upstream Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies12

Sort by
Total G 0.518513A 0.481487GG 0.274745GA/AG 0.487536AA 0.237719pop=677,480 ↬
African G 0.69199A 0.30801GG 0.479249GA/AG 0.425482AA 0.095269pop=68,816
African American G 0.69041A 0.30959GG 0.477355GA/AG 0.42611AA 0.096536pop=66,504
African Others G 0.7375A 0.2625GG 0.533737GA/AG 0.407439AA 0.058824pop=2,312
Asian G 0.71435A 0.28565GG 0.50985GA/AG 0.408997AA 0.081153pop=13,604
East Asian G 0.7147A 0.2853GG 0.508811GA/AG 0.411694AA 0.079495pop=9,988
European G 0.484564A 0.515436GG 0.235524GA/AG 0.498079AA 0.266397pop=521,170
Latin American 1 G 0.5775A 0.4225GG 0.331861GA/AG 0.491272AA 0.176866pop=9,510
Latin American 2 G 0.58971A 0.41029GG 0.347822GA/AG 0.483768AA 0.16841pop=21,994
Other G 0.53849A 0.46151GG 0.296399GA/AG 0.484184AA 0.219417pop=33,826
Other Asian G 0.7135A 0.2865GG 0.512721GA/AG 0.401549AA 0.08573pop=3,616
South Asian G 0.5522A 0.4478GG 0.308178GA/AG 0.488084AA 0.203738pop=8,560

Studies0

Unread Studies0 ▼

No new studies.

Curated Studies0 ▼

These studies were determined to be useful for this variant — check "Unused Studies" further down if curious what didn't make the cut.

No curated studies yet.

Unused Studies0 ▼

No unused studies.