rs1041983

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs1041983(C;T)

Make rs1041983(T;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

18400285

Gene

NAT2

is a	snp
is	mentioned by
dbSNP	rs1041983
dbSNP (classic)	rs1041983
ClinGen	rs1041983
ebi	rs1041983
HLI	rs1041983
Exac	rs1041983
Gnomad	rs1041983
Varsome	rs1041983
LitVar	rs1041983
Map	rs1041983
PheGenI	rs1041983
Biobank	rs1041983
1000 genomes	rs1041983
hgdp	rs1041983
ensembl	rs1041983
geneview	rs1041983
scholar	rs1041983
google	rs1041983
pharmgkb	rs1041983
gwascentral	rs1041983
openSNP	rs1041983
23andMe	rs1041983
SNPshot	rs1041983
SNPdbe	rs1041983
MSV3d	rs1041983
GWAS Ctlg	rs1041983

GMAF

0.3572

Max Magnitude

0

?

(C;C) (C;T) (T;T)

28

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

ClinVar
Risk	rs1041983(T;T)
Alt	rs1041983(T;T)
Reference	Rs1041983(C;C)
Significance	Drug-response
Disease	ethambutol
Variation	info
Gene	NAT2
CLNDBN	ethambutol, isoniazid, pyrazinamide, and rifampin response - Toxicity/ADR
Reversed	0
HGVS	NC_000008.10:g.18257795C>T
CLNSRC
CLNACC	RCV000417176.1,