Have questions? Visit https://www.reddit.com/r/SNPedia

rs4987076

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar


Make rs4987076(A;A)
ReferenceGRCh38 38.1/141
Chromosome8
Position18222492
GeneNAT1
is asnp
is mentioned by
dbSNPrs4987076
ebirs4987076
HLIrs4987076
Exacrs4987076
Varsomers4987076
Maprs4987076
PheGenIrs4987076
hapmaprs4987076
1000 genomesrs4987076
hgdprs4987076
ensemblrs4987076
gopubmedrs4987076
geneviewrs4987076
scholarrs4987076
googlers4987076
pharmgkbrs4987076
gwascentralrs4987076
openSNPrs4987076
23andMers4987076
23andMe allrs4987076
SNP Nexus

SNPshotrs4987076
SNPdbers4987076
MSV3drs4987076
GWAS Ctlgrs4987076
GMAF0.01607
Max Magnitude0

rs4987076 is a SNP tagging the NAT1*17 allele. See OMIM 108345.0002 for more information.

? (A;A) (A;G) (G;G) 28
OMIM108345
DescNAT1*17 ALLELE
Variant0002
Relatedalso


ClinVar
Risk rs4987076(A;A)
Alt rs4987076(A;A)
Reference rs4987076(G;G)
Significance Other
Disease NAT1*17 ALLELE
Variation info
Gene NAT1
CLNDBN NAT1*17 ALLELE
Reversed 0
HGVS NC_000008.10:g.18080001G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019386.28,



[PMID 16112301OA-icon.png] NAT2 slow acetylation, GSTM1 null genotype, and risk of bladder cancer: results from the Spanish Bladder Cancer Study and meta-analyses.


[PMID 16416399OA-icon.png] Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes.


[PMID 16847422OA-icon.png] Genetic variation in N-acetyltransferase 1 (NAT1) and 2 (NAT2) and risk of non-Hodgkin lymphoma.


[PMID 21290563OA-icon.png] Functional effects of genetic polymorphisms in the N-acetyltransferase 1 coding and 3' untranslated regions.


GET Evidence
NAT1-V149I
aa_change Val149Ile
aa_change_short V149I
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.03125
summary