rs2308321
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in complete genomics |
| Make rs2308321(A;G) |
| Make rs2308321(G;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 129766800 |
| Gene | MGMT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2308321 |
| dbSNP (classic) | rs2308321 |
| ClinGen | rs2308321 |
| ebi | rs2308321 |
| HLI | rs2308321 |
| Exac | rs2308321 |
| Gnomad | rs2308321 |
| Varsome | rs2308321 |
| LitVar | rs2308321 |
| Map | rs2308321 |
| PheGenI | rs2308321 |
| Biobank | rs2308321 |
| 1000 genomes | rs2308321 |
| hgdp | rs2308321 |
| ensembl | rs2308321 |
| geneview | rs2308321 |
| scholar | rs2308321 |
| rs2308321 | |
| pharmgkb | rs2308321 |
| gwascentral | rs2308321 |
| openSNP | rs2308321 |
| 23andMe | rs2308321 |
| SNPshot | rs2308321 |
| SNPdbe | rs2308321 |
| MSV3d | rs2308321 |
| GWAS Ctlg | rs2308321 |
| GMAF | 0.06474 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
rs2308321, also known as Ile143Val or I143V, is a SNP in the MGMT gene. The more common (A) allele encodes the Ile, while the (G) allele encodes the Val. This change at codon 143 is often reported to be linked to a change at codon 178, rs2308327.
[PMID 21075068] SMAD7 and MGMT genotype variants and cancer incidence in the European Prospective Investigation into Cancer and Nutrition (EPIC)-Norfolk Study
[PMID 20938339] Temozolomide-induced severe myelosuppression: analysis of clinically associated polymorphisms in two patients
[PMID 16857995
] Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes.
[PMID 17119116] Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study.
[PMID 17482892] Human variants of O6-alkylguanine-DNA alkyltransferase.
[PMID 18191955] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.
[PMID 18796628] Etiologic heterogeneity among non-Hodgkin lymphoma subtypes.
[PMID 18990748] International Lung Cancer Consortium: pooled analysis of sequence variants in DNA repair and cell cycle pathways.
[PMID 19124499] Association and interactions between DNA repair gene polymorphisms and adult glioma.
[PMID 19181721] Next generation tools for the annotation of human SNPs.
[PMID 19438866] Polymorphisms in genes involved in DNA repair, cell growth, oxidative stress and inflammatory response, and melanoma risk.
[PMID 24238921] Identification of methylguanine methyltransferase polymorphisms as genetic markers of individual susceptibility to therapy-related myeloid neoplasms
[PMID 24552298] Association Between Six Genetic Polymorphisms and Colorectal Cancer: A Meta-Analysis
