Variant (rsID / SNP)

rs4680

rs4680 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to COMT. Location: chromosome 22, position 19,951,271. Clinical significance in the table: Benign.

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Reference-table entries

COMTBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 22:19951271
Cytoband: 22q11.21
HGVS: NM_000754.4(COMT):c.472G>A (p.Val158Met)
Allele change: Missense_V158M

Associated conditions / phenotypes

CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM|Tramadol response

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.