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rs2308321

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in complete genomics
Make rs2308321(A;G)
Make rs2308321(G;G)
ReferenceGRCh38 38.1/142
Chromosome10
Position129766800
GeneMGMT
is asnp
is mentioned by
dbSNPrs2308321
ebirs2308321
HLIrs2308321
Exacrs2308321
Varsomers2308321
Maprs2308321
PheGenIrs2308321
hapmaprs2308321
1000 genomesrs2308321
hgdprs2308321
ensemblrs2308321
gopubmedrs2308321
geneviewrs2308321
scholarrs2308321
googlers2308321
pharmgkbrs2308321
gwascentralrs2308321
openSNPrs2308321
23andMers2308321
23andMe allrs2308321
SNP Nexus

SNPshotrs2308321
SNPdbers2308321
MSV3drs2308321
GWAS Ctlgrs2308321
GMAF0.06474
Max Magnitude0
? (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.
Neighborrs2308327
Distance106


[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 16857995OA-icon.png] Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes.


[PMID 17119116OA-icon.png] Gene-nutrient interactions among determinants of folate and one-carbon metabolism on the risk of non-Hodgkin lymphoma: NCI-SEER case-control study.


[PMID 17482892OA-icon.png] Human variants of O6-alkylguanine-DNA alkyltransferase.


[PMID 18191955OA-icon.png] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.


[PMID 18796628OA-icon.png] Etiologic heterogeneity among non-Hodgkin lymphoma subtypes.


[PMID 18990748OA-icon.png] International Lung Cancer Consortium: pooled analysis of sequence variants in DNA repair and cell cycle pathways.


[PMID 19124499OA-icon.png] Association and interactions between DNA repair gene polymorphisms and adult glioma.


[PMID 19181721OA-icon.png] Next generation tools for the annotation of human SNPs.


[PMID 19438866OA-icon.png] Polymorphisms in genes involved in DNA repair, cell growth, oxidative stress and inflammatory response, and melanoma risk.


GET Evidence
MGMT-I143V
aa_change Ile143Val
aa_change_short I143V
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0625
summary



[PMID 24238921] Identification of methylguanine methyltransferase polymorphisms as genetic markers of individual susceptibility to therapy-related myeloid neoplasms


[PMID 24552298OA-icon.png] Association Between Six Genetic Polymorphisms and Colorectal Cancer: A Meta-Analysis