CHROMOSOME 22 COMT 22q11.21 GENE VIEW COMT · 22q11.21 22q10 22q12 rs165631 — ~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 rs165631 C / A · COMT · 22q11.21 HOMOZYGOUS WILD TYPE (DOMINANT) 5′ 3′ C 5′ 3′ C HETEROZYGOUS 5′ 3′ C 5′ 3′ A HOMOZYGOUS ALTERNATE (RECESSIVE) 5′ 3′ A 5′ 3′ A C Cytosine — reference allele A Adenine — variant allele genetics.jdge.cc

rs165631

Gene: COMT — Catechol-O-Methyltransferase Chr 22:19964293 22q11.21 500B Downstream Variant
NCBI ↗ GeneCards ↗ Open Targets ↗ gnomAD ↗ OMIM ↗ ClinVar ↗ Varsome ↗ LOVD ↗

Population Frequencies10

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Total C 0.987605T 0.012395CC 0.975436CT/TC 0.024337TT 0.000227pop=450,008
African C 0.99637T 0.00363CC 0.992739CT/TC 0.007261TT 0pop=48,204
African American C 0.99623T 0.00377CC 0.992468CT/TC 0.007532TT 0pop=46,470
Asian C 0.999T 0.001CC 0.997916CT/TC 0.002084TT 0pop=9,598
European C 0.986307T 0.013693CC 0.97286CT/TC 0.026894TT 0.000246pop=349,154
Latin American 1 C 0.9841T 0.0159CC 0.968447CT/TC 0.031284TT 0.00027pop=7,416
Latin American 2 C 0.98802T 0.01198CC 0.976226CT/TC 0.023587TT 0.000187pop=10,684
Other C 0.98531T 0.01469CC 0.971189CT/TC 0.028252TT 0.000559pop=21,450
Other Asian C 0.9952T 0.0048CC 0.990357CT/TC 0.009643TT 0pop=2,074
South Asian C 0.9854T 0.0146CC 0.970874CT/TC 0.029126TT 0pop=3,502

Studies8

Unread Studies8
1
Breast cancer is the most commonly diagnosed malignancy among females, and it is the second common cancer (11.6%) among both sexes. Based on the records in 2018, annually …
2
… L203 (rs165631) in the gene COMT encoding catechol O-methyltransferase. Rs165631 has an overall population allele frequency of 1% among 60,418 persons. It was present in 5 of …
3
… The author replies: Our decision to highlight the rs165631 … the minor allele frequency of rs165631, which was calculated on … regarding rs165631 can be considered only as preliminary. …
4
Genetic polymorphisms in the Catechol O-Methyltransferase (COMT) gene have been linked to increased pain sensitivity in a number of studies. A literature search was performed to …
5
Genetic polymorphisms in the Catechol O-Methyltransferase (COMT) gene have been linked to increased pain sensitivity in a number of studies. A literature search was performed to …
6
The catechol-O-methyltransferase (COMT) gene is of significant interest to neuroscience, due to its role in modulating dopamine function. COMT is dynamically regulated; its expression …
7
Pain is a common symptom for patients with cancer, and opioids are the treatment of choice for moderate or severe cancer‐related pain. Central side effects, such as …
8
Methylation is an important event in the biotransformation pathway for many drugs and xenobiotic compounds. We screened DNA from 48 Japanese individuals for single-nucleotide …
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.