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From SNPedia

Geno Mag Summary
(A;A) 2.4 Somewhat increased risk of hearing loss
(A;G) 1.7 Possibly slightly increased risk of hearing loss
(G;G) 0 Normal
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
dbSNP (classic)rs1799930
1000 genomesrs1799930
GWAS Ctlgrs1799930
Max Magnitude2.4
? (A;A) (A;G) (G;G) 28

rs1799930 is a SNP in the NAT2 gene, potentially encoding a variant detoxifying protein known as an N-acetyltransferase, but which NAT2 variant depends on which other NAT2 SNPs were also inherited. See the discussion of the NAT2 gene for a more complete explanation. Also known as G590A.

The risk allele for this SNP is rs1799930(A).

A user has posted a question on the Discussion page for this SNP.

[PMID 17513527OA-icon.png] In an age-related hearing impairment study of 2500+ Caucasians ranging in age from 53 to 67, those with the AA genotype for NAT2*6A had worse hearing compared with heterozygous or homozygous GG subjects (p=0.013).

[PMID 25155015OA-icon.png] No association between NAT2*6A and AHRI was found in a study of 265 elderly UK volunteers.

[PMID 20180013] Genetic polymorphisms in folate and alcohol metabolism and breast cancer risk: a case-control study in Thai women

[PMID 16369173] N-acetyltransferase 2 gene polymorphism and presbycusis.

[PMID 17513527OA-icon.png] Contribution of the N-acetyltransferase 2 polymorphism NAT2*6A to age-related hearing impairment.


[PMID 22092036OA-icon.png] Accuracy of various human NAT2 SNP genotyping panels to infer rapid, intermediate and slow acetylator phenotypes

Risk Rs1799930(A;A)
Alt Rs1799930(A;A)
Reference Rs1799930(G;G)
Significance Drug-response
Disease Slow acetylator due to N-acetyltransferase enzyme variant ethambutol
Variation info
Gene NAT2
CLNDBN Slow acetylator due to N-acetyltransferase enzyme variant ethambutol, isoniazid, pyrazinamide, and rifampin response - Toxicity/ADR, Metabolism/PK
Reversed 0
HGVS NC_000008.10:g.18258103G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000758.1, RCV000417141.1,

[PMID 14724163OA-icon.png] Analysis of candidate modifier loci for the severity of colonic familial adenomatous polyposis, with evidence for the importance of the N-acetyl transferases.

[PMID 16112301OA-icon.png] NAT2 slow acetylation, GSTM1 null genotype, and risk of bladder cancer: results from the Spanish Bladder Cancer Study and meta-analyses.

[PMID 16416399OA-icon.png] Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes.

[PMID 16847422OA-icon.png] Genetic variation in N-acetyltransferase 1 (NAT1) and 2 (NAT2) and risk of non-Hodgkin lymphoma.

[PMID 17160896OA-icon.png] Orofacial cleft risk is increased with maternal smoking and specific detoxification-gene variants.

[PMID 17335581OA-icon.png] Association of the diplotype configuration at the N-acetyltransferase 2 gene with adverse events with co-trimoxazole in Japanese patients with systemic lupus erythematosus.

[PMID 18252219OA-icon.png] A powerful and flexible multilocus association test for quantitative traits.

[PMID 18268115OA-icon.png] Meat intake, heterocyclic amine exposure, and metabolizing enzyme polymorphisms in relation to colorectal polyp risk.

[PMID 18298806OA-icon.png] Do genetic factors protect for early onset lung cancer? A case control study before the age of 50 years.

[PMID 18547414OA-icon.png] Genotyping panel for assessing response to cancer chemotherapy.

[PMID 18680467OA-icon.png] Structure/function evaluations of single nucleotide polymorphisms in human N-acetyltransferase 2.

[PMID 18768514OA-icon.png] Talc use, variants of the GSTM1, GSTT1, and NAT2 genes, and risk of epithelial ovarian cancer.

[PMID 18773084OA-icon.png] Multiple advantageous amino acid variants in the NAT2 gene in human populations.

[PMID 18936436OA-icon.png] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.

[PMID 18990750OA-icon.png] Red meat intake, doneness, polymorphisms in genes that encode carcinogen-metabolizing enzymes, and colorectal cancer risk.

[PMID 19390575OA-icon.png] Lung cancer susceptibility model based on age, family history and genetic variants.

[PMID 19766908] Association of NAT2 gene polymorphisms with susceptibility to esophageal and gastric cancers in the Kashmir Valley.

[PMID 20043821OA-icon.png] Evaluating NAT2PRED for inferring the individual acetylation status from unphased genotype data.

[PMID 21324488] Single nucleotide polymorphisms in tobacco metabolism and DNA repair genes and prognosis in resected non-small-cell lung cancer.

[PMID 22137356] An unlikely role for the NAT2 genotypes and haplotypes in the oral cancer of south Indians.

[PMID 22336957] Impact of population diversity on the prediction of 7-SNP NAT2 phenotypes using the tagSNP rs1495741 or paired SNPs.

[PMID 22970273OA-icon.png] The Differential Effect of NAT2 Variant Alleles Permits Refinement in Phenotype Inference and Identifies a Very Slow Acetylation Genotype

[PMID 23175176OA-icon.png] Variation in PAH-related DNA adduct levels among non-smokers: the role of multiple genetic polymorphisms and nucleotide excision repair phenotype.

[PMID 24928356] Synergism between the N-acetyltransferase 2 gene and oxidant exposure increases the risk of idiopathic male infertility

[PMID 25005845] N-Acetyltransferase 2 (NAT2) gene polymorphism and exposure to smoking in lung cancer of Chinese males

[PMID 25017831] N-acetyltransferase and cytochrome P450 2E1 gene polymorphisms and susceptibility to antituberculosis drug hepatotoxicity in an Indian population

[PMID 25081676] N-Acetyltransferase 2 Gene Polymorphisms are Associated with Susceptibility to Cancer: a Meta-analysis

[PMID 26409796OA-icon.png] N-acetyltransferase 1 and 2 polymorphisms and risk of diabetes mellitus type 2 in a Saudi population

[PMID 26445549OA-icon.png] Associations of polymorphisms in NAT2 gene with risk and metastasis of osteosarcoma in young Chinese population

[PMID 29505746] Association of N-acetyltransferase-2 and glutathione S-transferase polymorphisms with idiopathic male infertility in Vietnam male subjects.