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.