rs6413432
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | CYP2E1_marker9 homozygote | |
| (A;T) | carrier of one CYP2E1_marker9 allele | |
| (T;T) | normal |
| Reference | GRCh38 38.1/141 |
| Chromosome | 10 |
| Position | 133535040 |
| Gene | CYP2E1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs6413432 |
| dbSNP (classic) | rs6413432 |
| ClinGen | rs6413432 |
| ebi | rs6413432 |
| HLI | rs6413432 |
| Exac | rs6413432 |
| Gnomad | rs6413432 |
| Varsome | rs6413432 |
| LitVar | rs6413432 |
| Map | rs6413432 |
| PheGenI | rs6413432 |
| Biobank | rs6413432 |
| 1000 genomes | rs6413432 |
| hgdp | rs6413432 |
| ensembl | rs6413432 |
| geneview | rs6413432 |
| scholar | rs6413432 |
| rs6413432 | |
| pharmgkb | rs6413432 |
| gwascentral | rs6413432 |
| openSNP | rs6413432 |
| 23andMe | rs6413432 |
| SNPshot | rs6413432 |
| SNPdbe | rs6413432 |
| MSV3d | rs6413432 |
| GWAS Ctlg | rs6413432 |
| GMAF | 0.1547 |
| Max Magnitude | 0 |
rs6413432 is a SNP in the CYP2E1 gene.
The rs6413432(A) allele defines the CYP2E1_marker9 variant, as used in the 2008 study determining the 16 most common CYP2E1 haplotypes world-wide.(see CYP2E1 for details)
[PMID 20663217
] Genetic Polymorphisms of CYP2E1, GSTP1, NQO1 and MPO and the Risk of Nasopharyngeal Carcinoma in a Han Chinese Population of Southern China
[PMID 17116718] Dietary phytoestrogen intake is associated with reduced colorectal cancer risk.
[PMID 17380320] Genotype and allele frequencies of polymorphic CYP2E1 in the Turkish population.
[PMID 18547414] Genotyping panel for assessing response to cancer chemotherapy.
[PMID 18663376] Global patterns of variation in allele and haplotype frequencies and linkage disequilibrium across the CYP2E1 gene.
[PMID 18990750] Red meat intake, doneness, polymorphisms in genes that encode carcinogen-metabolizing enzymes, and colorectal cancer risk.
[PMID 20082485] Genetic variants involved in gallstone formation and capsaicin metabolism, and the risk of gallbladder cancer in Chilean women.
[PMID 24288753] CYP2E1 Gene Promoter Polymorphism -1293G>C Increases the Risk of Essential Hypertension in Men with Alcohol Abuse [PMID 22560290] A comparison of Val81Met and other polymorphisms of alcohol metabolising genes in patients and controls in Northern Spain.
[PMID 23130019] Frequencies of 23 functionally significant variant alleles related with metabolism of antineoplastic drugs in the chilean population: comparison with caucasian and asian populations.
| ClinVar | |
|---|---|
| Risk | Rs6413432(A;A) |
| Alt | Rs6413432(A;A) |
| Reference | Rs6413432(T;T) |
| Significance | Other |
| Disease | CYP2E1*6 ALLELE |
| Variation | info |
| Gene | CYP2E1 |
| CLNDBN | CYP2E1*6 ALLELE |
| Reversed | 0 |
| HGVS | NC_000010.10:g.135348544T>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000018384.27, |
[PMID 26925658] Association of CYP2E1, STK15 and XRCC1 Polymorphisms with Risk of Breast Cancer in Malaysian Women.
