Variant (rsID / SNP)

rs1799930

rs1799930 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NAT2. Location: chromosome 8, position 18,258,103. Clinical significance in the table: drug response.

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Reference-table entries

NAT2Drug response

Clinical significance (as recorded): drug response
Variant type: single nucleotide variant
Chromosome / position: 8:18258103
Cytoband: 8p22
HGVS: NM_000015.3(NAT2):c.590G>A (p.Arg197Gln)
Allele change: Missense_R197Q

Associated conditions / phenotypes

Slow acetylator due to N-acetyltransferase enzyme variant

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.