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rs1799930

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 2.8 Increased risk of hearing loss
(A;G) 1.7 Increased risk of hearing loss
(G;G) 0 Normal
ReferenceGRCh38 38.1/141
Chromosome8
Position18400593
GeneNAT2
is asnp
is mentioned by
dbSNPrs1799930
ebirs1799930
HLIrs1799930
Exacrs1799930
Varsomers1799930
Maprs1799930
PheGenIrs1799930
hapmaprs1799930
1000 genomesrs1799930
hgdprs1799930
ensemblrs1799930
gopubmedrs1799930
geneviewrs1799930
scholarrs1799930
googlers1799930
pharmgkbrs1799930
gwascentralrs1799930
openSNPrs1799930
23andMers1799930
23andMe allrs1799930
SNP Nexus

SNPshotrs1799930
SNPdbers1799930
MSV3drs1799930
GWAS Ctlgrs1799930
GMAF0.2456
Max Magnitude2.8
? (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).

Neighborrs1799929
Distance109
Neighborrs1208
Distance213



[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.


OMIM612182
Desc
Variant0001
Relatedalso
[PMID 22092036OA-icon.png] 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
Variation info
Gene NAT2
CLNDBN Slow acetylator due to N-acetyltransferase enzyme variant
Reversed 0
HGVS NC_000008.10:g.18258103G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000758.1,



[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


GET Evidence
NAT2-R197Q
aa_change Arg197Gln
aa_change_short R197Q
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.281744
summary This allele characterizes the NAT2*6A haplotype which causes slow acetylation.



[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 26409796] 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