Lurp

Cross-platforn SNP explorer. By Peter D'Adamo, ND


rs4680

Hard Link
rs4680 is a snp on gene COMT (catechol-O-methyltransferase)

GeneCOMT Chromosome number 22 Chromosome position 19963748
Alleles A/G Minor Allele A Minor Allele Frequency 0.3692
Notation ↓ 472G>A V158M Clinical significance Orientation (dbSNP) + (positive/forward strand)
SNP Function
Missense mutation. The minor allele A of this 472G>A variant produces a valine to methionine substitution, resulting in a less thermostable COMT enzyme that exhibits a 3-fold reduction in activity. In perfect LD with rs4633. [PMCID: PMC1180576]
Gene Function
Catechol-O-methyltransferase (COMT) gene helps break down the neurotransmitters dopamine and norepinephrine. A defect due to certain variants in COMT will cause higher levels of dopamine due to slower breakdown, which can contribute to anxiety and insomnia. Individuals can be more susceptible to dopamine fluctuations, and therefore mood swings. People without COMT mutations are generally more even tempered. Studies of the COMT Val158Met polymorphism have shown the variant affects cognitive tasks rated as executive function, aggression, and working memory and ratings of subjective well-being. The Val158Met variant has also been found to influence the effect of aspirin and vitamin E on cardiovascular risk. COMT is implicated in ADD/ADHD and bipolar disorders. A functioning FOKI SNP in the VDR gene and/or supplementing with vitamin D enhances dopamine formation. COMT is important in the metabolism of catechol drugs used in the treatment of hypertension, asthma, and Parkinson disease. Catechol-estrogens like 4-OH estrone, and catechol-containing flavonoids are metabolised by this enzyme, and play a role in the risk of cancer.  
GWAS Pathologies
Blood metabolite levels (A) ~ Blood metabolite levels (A) ~ Blood metabolite levels (A) ~ Blood metabolite levels (A)
Pharmacogenomics
Modafinil (AA): Poor response to modafinil * Modafinil (GG): Those with the GG genotype respond better to drug therapy (improved vigor and well being). Those with the AA genotype do not respond well to drug therapy
This SNP is reported by one or more services.


23andme V3

REPORTED




23andme V4

REPORTED




23andme V5

REPORTED




Ancestry DNA

REPORTED




Genos Export for Promethease

REPORTED




Opus 23 Curated

CURATED




CLINVAR Curated

CURATED




GWAS Curated

CURATED





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MOST FREQUENTLY SEARCHED:
rs9939609 (FTO) | rs1799941 (SHBG) | rs1801133 (MTHFR) | rs2569191 (CD14) | rs20541 (IL13) | rs2844682 (MUC21) | rs4680 (COMT) | rs2476601 (PTPN22) | rs2075252 (LRP2) | rs6025 (F5) | rs1801181 (CBS)








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