rs1208
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | |
| (G;G) | 0 | common in clinvar |
| Make rs1208(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 18400806 |
| Gene | NAT2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1208 |
| dbSNP (classic) | rs1208 |
| ClinGen | rs1208 |
| ebi | rs1208 |
| HLI | rs1208 |
| Exac | rs1208 |
| Gnomad | rs1208 |
| Varsome | rs1208 |
| LitVar | rs1208 |
| Map | rs1208 |
| PheGenI | rs1208 |
| Biobank | rs1208 |
| 1000 genomes | rs1208 |
| hgdp | rs1208 |
| ensembl | rs1208 |
| geneview | rs1208 |
| scholar | rs1208 |
| rs1208 | |
| pharmgkb | rs1208 |
| gwascentral | rs1208 |
| openSNP | rs1208 |
| 23andMe | rs1208 |
| SNPshot | rs1208 |
| SNPdbe | rs1208 |
| MSV3d | rs1208 |
| GWAS Ctlg | rs1208 |
| GMAF | 0.3145 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs1208 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 rs1208(G).
[PMID 21989592
] Interactions of cigarette smoking with NAT2 polymorphisms impact rheumatoid arthritis risk in African Americans
[PMID 22092036] Accuracy of various human NAT2 SNP genotyping panels to infer rapid, intermediate and slow acetylator phenotypes
[PMID 20459474] Can we predict top-level sports performance in power vs endurance events? A genetic approach
| ClinVar | |
|---|---|
| Risk | Rs1208(A;A) |
| Alt | Rs1208(A;A) |
| Reference | Rs1208(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.18258316G\x3d |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000000760.1, |
[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 18547414] Genotyping panel for assessing response to cancer chemotherapy.
[PMID 18664443] Unraveling ambiguous NAT2 genotyping data.
[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 2068113] Diverse point mutations in the human gene for polymorphic N-acetyltransferase.
[PMID 6721992] A simple test for acetylator phenotype using caffeine.
[PMID 8807666] NAT2*12A (803A-->G) codes for rapid arylamine n-acetylation in humans.
[PMID 24939416] CYP1A1 Ile462Val polymorphism and colorectal cancer risk in Polish patients
[PMID 25798622] Identification and validation of N-acetyltransferase 2 as an insulin sensitivity gene
