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rs1799929

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0
Make rs1799929(C;T)
Make rs1799929(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position18400484
GeneNAT2
is asnp
is mentioned by
dbSNPrs1799929
ebirs1799929
HLIrs1799929
Exacrs1799929
Varsomers1799929
Maprs1799929
PheGenIrs1799929
hapmaprs1799929
1000 genomesrs1799929
hgdprs1799929
ensemblrs1799929
gopubmedrs1799929
geneviewrs1799929
scholarrs1799929
googlers1799929
pharmgkbrs1799929
gwascentralrs1799929
openSNPrs1799929
23andMers1799929
23andMe allrs1799929
SNP Nexus

SNPshotrs1799929
SNPdbers1799929
MSV3drs1799929
GWAS Ctlgrs1799929
GMAF0.2773
Max Magnitude0
? (C;C) (C;T) (T;T) 28
rs1799929 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.

The risk allele for this SNP is rs1799929(T).

When this SNP is indicative of carrying a NAT2*5A allele, the following may be relevant:

A study (based on only 42 patients) found that women with the NAT2*5A slow genotype (which presumably means rs1799929(T;T)) had a significantly higher risk of cervical cancer compared with individuals with the NAT2*5A fast genotype (i.e. carriers of only one rs1799929(T) allele), with a reported odds ratio of 7.469 (CI: 1.6-33.3, p=0.008).[PMID 19823052]

Neighborrs1801280
Distance140
Neighborrs1799930
Distance109
[PMID 22092036OA-icon.png] Accuracy of various human NAT2 SNP genotyping panels to infer rapid, intermediate and slow acetylator phenotypes


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


[PMID 18664443] Unraveling ambiguous NAT2 genotyping data.


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


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


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


GET Evidence
rs1799929
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.371909
summary



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


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


[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