rs1799930

plus

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

Reference

GRCh38 38.1/141

Chromosome

8

Position

18400593

Gene

NAT2

is a	snp
is	mentioned by
dbSNP	rs1799930
dbSNP (classic)	rs1799930
ClinGen	rs1799930
ebi	rs1799930
HLI	rs1799930
Exac	rs1799930
Gnomad	rs1799930
Varsome	rs1799930
LitVar	rs1799930
Map	rs1799930
PheGenI	rs1799930
Biobank	rs1799930
1000 genomes	rs1799930
hgdp	rs1799930
ensembl	rs1799930
geneview	rs1799930
scholar	rs1799930
google	rs1799930
pharmgkb	rs1799930
gwascentral	rs1799930
openSNP	rs1799930
23andMe	rs1799930
SNPshot	rs1799930
SNPdbe	rs1799930
MSV3d	rs1799930
GWAS Ctlg	rs1799930

GMAF

0.2456

Max Magnitude

2.4

?

(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 17513527 ] 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 25155015 ] 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 17513527 ] Contribution of the N-acetyltransferase 2 polymorphism NAT2*6A to age-related hearing impairment.

OMIM	612182
Desc
Variant	0001
Related	also

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

ClinVar
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 14724163 ] Analysis of candidate modifier loci for the severity of colonic familial adenomatous polyposis, with evidence for the importance of the N-acetyl transferases.

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

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

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

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

[PMID 17335581 ] 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 18252219 ] A powerful and flexible multilocus association test for quantitative traits.

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

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

[PMID 18547414 ] Genotyping panel for assessing response to cancer chemotherapy.

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

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

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

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

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

[PMID 19390575 ] 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 20043821 ] 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 22970273 ] The Differential Effect of NAT2 Variant Alleles Permits Refinement in Phenotype Inference and Identifies a Very Slow Acetylation Genotype

[PMID 23175176 ] 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 26409796 ] N-acetyltransferase 1 and 2 polymorphisms and risk of diabetes mellitus type 2 in a Saudi population

[PMID 26445549 ] 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.