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rs2308327

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 normal
(A;G) 0.67x decreased risk for lung cancer
(G;G) 0.10x decreased risk for lung cancer
ReferenceGRCh38 38.1/142
Chromosome10
Position129766906
GeneMGMT
is asnp
is mentioned by
dbSNPrs2308327
ebirs2308327
HLIrs2308327
Exacrs2308327
Varsomers2308327
Maprs2308327
PheGenIrs2308327
hapmaprs2308327
1000 genomesrs2308327
hgdprs2308327
ensemblrs2308327
gopubmedrs2308327
geneviewrs2308327
scholarrs2308327
googlers2308327
pharmgkbrs2308327
gwascentralrs2308327
openSNPrs2308327
23andMers2308327
23andMe allrs2308327
SNP Nexus

SNPshotrs2308327
SNPdbers2308327
MSV3drs2308327
GWAS Ctlgrs2308327
GMAF0.06474
Max Magnitude0
? (A;A) (A;G) (G;G) 28
rs2308327, also known as K178R, is a SNP in the MGMT gene. The more common allele, rs2308327(A), encodes a lysine (K) at codon 178, while the (G) allele encodes an arginine (R).

In a pooled analysis of 200+ lung cancer patients, the rs2308327(G) allele was reported to provide a protective effect against lung cancer, and furthermore, more (G) alleles meant more protection, particularly for smokers. The odds ratios reported (p=0.003) were 0.67 (CI: 0.45-1.01) for heterozygotes, and 0.10 (CI: 0.01-0.94) for rs2308327(G;G) homozygotes.[PMID 17957803]

In a study of 300+ colon cancer cases, rs2308327(G), in linkage disequilibrium with the previously reported MGMT Ile(143)Val rs2308321 SNP, had an inverse association with colorectal cancer risk (odds ratio 0.52, CI: 0.35-0.78, unadjusted p(trend) = 0.0003 for the additive model).[PMID 18268114]

Neighborrs2308321
Distance106


[PMID 20938339] Temozolomide-induced severe myelosuppression: analysis of clinically associated polymorphisms in two patients


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[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 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.


GET Evidence
MGMT-K178R
aa_change Lys178Arg
aa_change_short K178R
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