rs2515641
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | normal |
| (C;T) | carrier of one CYP2E1_10463T>C(F421F) allele | |
| (T;T) | 2 | CYP2E1_10463T>C(F421F) homozygote |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 133537858 |
| Gene | CYP2E1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2515641 |
| dbSNP (classic) | rs2515641 |
| ClinGen | rs2515641 |
| ebi | rs2515641 |
| HLI | rs2515641 |
| Exac | rs2515641 |
| Gnomad | rs2515641 |
| Varsome | rs2515641 |
| LitVar | rs2515641 |
| Map | rs2515641 |
| PheGenI | rs2515641 |
| Biobank | rs2515641 |
| 1000 genomes | rs2515641 |
| hgdp | rs2515641 |
| ensembl | rs2515641 |
| geneview | rs2515641 |
| scholar | rs2515641 |
| rs2515641 | |
| pharmgkb | rs2515641 |
| gwascentral | rs2515641 |
| openSNP | rs2515641 |
| 23andMe | rs2515641 |
| SNPshot | rs2515641 |
| SNPdbe | rs2515641 |
| MSV3d | rs2515641 |
| GWAS Ctlg | rs2515641 |
| GMAF | 0.27 |
| Max Magnitude | 2 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs2515641 is a SNP in the CYP2E1 gene.
The rs2515641(T) allele defines the CYP2E1_10463T>C(F421F) variant.
[PMID 16385451
] A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
[PMID 18663376] Global patterns of variation in allele and haplotype frequencies and linkage disequilibrium across the CYP2E1 gene.
[PMID 19131562] Biomarkers of human exposure to acrylamide and relation to polymorphisms in metabolizing genes.
[PMID 23460870] Cytochrome P450 2E1 gene polymorphisms/haplotypes and anti-tuberculosis drug-induced hepatitis in a Chinese cohort
[PMID 24654912] Association studies of cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1) gene polymorphisms with acute rejection in kidney transplantation recipients
| ClinVar | |
|---|---|
| Risk | Rs2515641(C;C) rs2515641(G;G) |
| Alt | Rs2515641(C;C) rs2515641(G;G) |
| Reference | Rs2515641(T;T) |
| Significance | Non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | CYP2E1 |
| CLNDBN | not specified |
| Reversed | 0 |
| HGVS | NC_000010.10:g.135351362T>C |
| CLNSRC | |
| CLNACC | RCV000455849.1, |
