rs1799931
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs1799931(A;A) |
| Make rs1799931(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 18400860 |
| Gene | NAT2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1799931 |
| dbSNP (classic) | rs1799931 |
| ClinGen | rs1799931 |
| ebi | rs1799931 |
| HLI | rs1799931 |
| Exac | rs1799931 |
| Gnomad | rs1799931 |
| Varsome | rs1799931 |
| LitVar | rs1799931 |
| Map | rs1799931 |
| PheGenI | rs1799931 |
| Biobank | rs1799931 |
| 1000 genomes | rs1799931 |
| hgdp | rs1799931 |
| ensembl | rs1799931 |
| geneview | rs1799931 |
| scholar | rs1799931 |
| rs1799931 | |
| pharmgkb | rs1799931 |
| gwascentral | rs1799931 |
| openSNP | rs1799931 |
| 23andMe | rs1799931 |
| SNPshot | rs1799931 |
| SNPdbe | rs1799931 |
| MSV3d | rs1799931 |
| GWAS Ctlg | rs1799931 |
| GMAF | 0.07117 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs1799931 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 rs1799931(A).
[PMID 22092036
] Accuracy of various human NAT2 SNP genotyping panels to infer rapid, intermediate and slow acetylator phenotypes
| ClinVar | |
|---|---|
| Risk | rs1799931(A;A) |
| Alt | rs1799931(A;A) |
| Reference | Rs1799931(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.18258370G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000000761.1, |
[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 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 18268115] Meat intake, heterocyclic amine exposure, and metabolizing enzyme polymorphisms in relation to colorectal polyp risk.
[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 18990750] Red meat intake, doneness, polymorphisms in genes that encode carcinogen-metabolizing enzymes, and colorectal cancer risk.
[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 22137356] An unlikely role for the NAT2 genotypes and haplotypes in the oral cancer of south Indians.
[PMID 1968463] Cloning and expression of cDNAs for polymorphic and monomorphic arylamine N-acetyltransferases from human liver.
[PMID 23072573] Multiplex Allele-Specific Amplification from Whole Blood for Detecting Multiple Polymorphisms Simultaneously
[PMID 23175176] Variation in PAH-related DNA adduct levels among non-smokers: the role of multiple genetic polymorphisms and nucleotide excision repair phenotype.
[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
