|(C;C)||0||common in clinvar|
rs1041983, also known as C282T, 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 allele associated with slow NAT2 metabolization for this SNP is rs1041983(T). Genosets gs154 and gs156 evaluate predicated NAT2 metabolizer phenotype based on rs1041983 and rs1801280.[PMID 21750470]
[PMID 22092036] Accuracy of various human NAT2 SNP genotyping panels to infer rapid, intermediate and slow acetylator phenotypes
[PMID 16112301] NAT2 slow acetylation, GSTM1 null genotype, and risk of bladder cancer: results from the Spanish Bladder Cancer Study and meta-analyses.
[PMID 16400611] Genomewide linkage scan of 409 European-ancestry and African American families with schizophrenia: suggestive evidence of linkage at 8p23.3-p21.2 and 11p13.1-q14.1 in the combined sample.
[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 18547414] Genotyping panel for assessing response to cancer chemotherapy.
[PMID 18680467] Structure/function evaluations of single nucleotide polymorphisms in human N-acetyltransferase 2.
[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 20043821] Evaluating NAT2PRED for inferring the individual acetylation status from unphased genotype data.
[PMID 21750470] Genotyping NAT2 with only two SNPs (rs1041983 and rs1801280) outperforms the tagging SNP rs1495741 and is equivalent to the conventional 7-SNP NAT2 genotype.
[PMID 22336957] Impact of population diversity on the prediction of 7-SNP NAT2 phenotypes using the tagSNP rs1495741 or paired SNPs.
[PMID 22414877] Novel tagging SNP rs1495741 and 2-SNPs (rs1041983 and rs1801280) yield a high prediction of the NAT2 genotype in HapMap samples.
[PMID 23660777] Association of NAT1 and NAT2 genes with nonsyndromic cleft lip and palate.
[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
|CLNDBN||ethambutol, isoniazid, pyrazinamide, and rifampin response - Toxicity/ADR|