Genetics Genetics Research
CHROMOSOME 22 COMT 22q11.21 GENE VIEW COMT · 22q11.21 22q10 22q12 rs4633 — ~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 rs4633 C / T · COMT · 22q11.21 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ T HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ T 5′ 3′ T C Cytosine — reference allele T Thymine — variant allele genetics.jdge.cc

rs4633

Gene: COMT — Catechol-O-Methyltransferase Chr 22:19962712 22q11.21 2KB Upstream Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total C 0.513518T 0.486482CC 0.267339CT/TC 0.492357TT 0.240304pop=440,392 ↬
African C 0.66949T 0.33051CC 0.449465CT/TC 0.440052TT 0.110484pop=40,368
African American C 0.66822T 0.33178CC 0.447678CT/TC 0.44108TT 0.111242pop=39,104
African Others C 0.7089T 0.2911CC 0.504747CT/TC 0.408228TT 0.087025pop=1,264
Asian C 0.7145T 0.2855CC 0.512039CT/TC 0.404858TT 0.083102pop=9,386
East Asian C 0.7129T 0.2871CC 0.50824CT/TC 0.409357TT 0.082403pop=7,524
European C 0.484188T 0.515812CC 0.233312CT/TC 0.501752TT 0.264936pop=348,160
Latin American 1 C 0.5714T 0.4286CC 0.328354CT/TC 0.486067TT 0.185579pop=6,962
Latin American 2 C 0.58769T 0.41231CC 0.349177CT/TC 0.477026TT 0.173796pop=16,410
Other C 0.53531T 0.46469CC 0.290182CT/TC 0.490249TT 0.21957pop=17,844
Other Asian C 0.7207T 0.2793CC 0.52739CT/TC 0.386681TT 0.085929pop=1,862
South Asian C 0.5293T 0.4707CC 0.285261CT/TC 0.488114TT 0.226624pop=1,262

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