Variant (rsID / SNP)

rs4986893

rs4986893 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CYP2C19. Location: chromosome 10, position 96,540,410. Clinical significance in the table: drug response.

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Reference-table entries

CYP2C19Drug response

Clinical significance (as recorded): drug response
Variant type: single nucleotide variant
Chromosome / position: 10:96540410
Cytoband: 10q23.33
HGVS: NM_000769.1(CYP2C19):c.636G>A (p.Trp212Ter)
Allele change: Nonsense_W212X

Associated conditions / phenotypes

Mephenytoin, poor metabolism of|Proguanil, poor metabolism of|CYP2C19: no function|Acute coronary syndrome

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.