Genetics Genetics Research
CHROMOSOME 22 COMT 22q11.21 GENE VIEW COMT · 22q11.21 22q10 22q12 rs4646312 — ~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 rs4646312 T / C · COMT · 22q11.21 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ T 5′ 3′ T HETEROZYGOUS 5′ 3′ T 5′ 3′ C HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ C 5′ 3′ C T Thymine — reference allele C Cytosine — variant allele genetics.jdge.cc

rs4646312

Gene: COMT — Catechol-O-Methyltransferase Chr 22:19960814 22q11.21 Intron Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ Varsome ↗ LOVD ↗

Population Frequencies12

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Total T 0.637694C 0.362306TT 0.412457TC/CT 0.450475CC 0.137068pop=490,282 ↬
African T 0.82786C 0.17214TT 0.685144TC/CT 0.285433CC 0.029423pop=52,748
African American T 0.82628C 0.17372TT 0.682624TC/CT 0.287309CC 0.030067pop=50,886
African Others T 0.8711C 0.1289TT 0.754028TC/CT 0.234157CC 0.011815pop=1,862
Asian T 0.7154C 0.2846TT 0.514617TC/CT 0.401544CC 0.083839pop=7,252
East Asian T 0.7152C 0.2848TT 0.515609TC/CT 0.399127CC 0.085264pop=5,958
European T 0.602739C 0.397261TT 0.363271TC/CT 0.478936CC 0.157793pop=386,632
Latin American 1 T 0.6794C 0.3206TT 0.457483TC/CT 0.443784CC 0.098734pop=7,738
Latin American 2 T 0.75799C 0.24201TT 0.575591TC/CT 0.364792CC 0.059618pop=17,780
Other T 0.66088C 0.33912TT 0.44469TC/CT 0.432381CC 0.122929pop=12,674
Other Asian T 0.7164C 0.2836TT 0.510046TC/CT 0.412674CC 0.07728pop=1,294
South Asian T 0.668C 0.332TT 0.455478TC/CT 0.425064CC 0.119458pop=5,458

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