rs4987076
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 1.5 | NAT1*17 allele |
| (G;G) | 0 | common in clinvar |
| Make rs4987076(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 18222492 |
| Gene | NAT1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs4987076 |
| dbSNP (classic) | rs4987076 |
| ClinGen | rs4987076 |
| ebi | rs4987076 |
| HLI | rs4987076 |
| Exac | rs4987076 |
| Gnomad | rs4987076 |
| Varsome | rs4987076 |
| LitVar | rs4987076 |
| Map | rs4987076 |
| PheGenI | rs4987076 |
| Biobank | rs4987076 |
| 1000 genomes | rs4987076 |
| hgdp | rs4987076 |
| ensembl | rs4987076 |
| geneview | rs4987076 |
| scholar | rs4987076 |
| rs4987076 | |
| pharmgkb | rs4987076 |
| gwascentral | rs4987076 |
| openSNP | rs4987076 |
| 23andMe | rs4987076 |
| SNPshot | rs4987076 |
| SNPdbe | rs4987076 |
| MSV3d | rs4987076 |
| GWAS Ctlg | rs4987076 |
| GMAF | 0.01607 |
| Max Magnitude | 1.5 |
rs4987076 is a SNP tagging the NAT1*17 allele. See OMIM 108345.0002 for more information.
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs4987076(A;A) rs4987076(C;C) |
| Alt | rs4987076(A;A) rs4987076(C;C) |
| Reference | Rs4987076(G;G) |
| Significance | Other |
| Disease | NAT1*17 ALLELE not specified |
| Variation | info |
| Gene | NAT1 |
| CLNDBN | NAT1*17 ALLELE not specified |
| Reversed | 0 |
| HGVS | NC_000008.10:g.18080001G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019386.28, RCV000455973.1, |
[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 21290563
] Functional effects of genetic polymorphisms in the N-acetyltransferase 1 coding and 3' untranslated regions.
