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rs6413419

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) CYP2E1*4 homozygote
(A;G) carrier of one CYP2E1*4 allele
(G;G) 0 normal
ReferenceGRCh38 38.1/142
Chromosome10
Position133532171
GeneCYP2E1
is asnp
is mentioned by
dbSNPrs6413419
ebirs6413419
HLIrs6413419
Exacrs6413419
Varsomers6413419
Maprs6413419
PheGenIrs6413419
hapmaprs6413419
1000 genomesrs6413419
hgdprs6413419
ensemblrs6413419
gopubmedrs6413419
geneviewrs6413419
scholarrs6413419
googlers6413419
pharmgkbrs6413419
gwascentralrs6413419
openSNPrs6413419
23andMers6413419
23andMe allrs6413419
SNP Nexus

SNPshotrs6413419
SNPdbers6413419
MSV3drs6413419
GWAS Ctlgrs6413419
GMAF0.06657
Max Magnitude0
? (A;A) (A;G) (G;G) 28
rs6413419, also known as 4768G>A or V179I, is a SNP in the CYP2E1 gene.

The rs6413419(A) allele defines the CYP2E1*4 variant.


[PMID 22126492] Genetic Polymorphisms of the CYP2E1 Gene do not Contribute to Oral Cancer Susceptibility in South Indians


[PMID 18663376OA-icon.png] Global patterns of variation in allele and haplotype frequencies and linkage disequilibrium across the CYP2E1 gene.


[PMID 19131562OA-icon.png] Biomarkers of human exposure to acrylamide and relation to polymorphisms in metabolizing genes.


GET Evidence
CYP2E1-V179I
aa_change Val179Ile
aa_change_short V179I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0876557
summary



[PMID 22560290] A comparison of Val81Met and other polymorphisms of alcohol metabolising genes in patients and controls in Northern Spain.