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rs366631

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 1.25 GSTM1*1 status
(C;T) 1.25 GSTM1*1 status
(T;T) 1.25 Common in Caucasians; GSTM1*0/0 null status
ReferenceGRCh38 38.1/141
Chromosome1
Position109709850
GeneGSTM1
is asnp
is mentioned by
dbSNPrs366631
ebirs366631
HLIrs366631
Exacrs366631
Varsomers366631
Maprs366631
PheGenIrs366631
hapmaprs366631
1000 genomesrs366631
hgdprs366631
ensemblrs366631
gopubmedrs366631
geneviewrs366631
scholarrs366631
googlers366631
pharmgkbrs366631
gwascentralrs366631
openSNPrs366631
23andMers366631
23andMe allrs366631
SNP Nexus

SNPshotrs366631
SNPdbers366631
MSV3drs366631
GWAS Ctlgrs366631
Max Magnitude1.25

Although located 11kb away from it, rs366631 is effectively a pseudo-SNP tagging the status of the GSTM1 gene, due to the nature of the duplications and deletions in this part of chromosome 1.[PMID 18948376OA-icon.png]

In typical microarray-based genotyping results, the correspondence between the rs366631 call and GSTM1 allele status is the following:

  • rs366631(T;T): GSTM1*0/0, i.e. GSTM null allele (double deletion)
  • rs366631 (C;T) and (C;C): GSTM1*1, i.e. at least one functional GSTM1 gene copy is present


The GSTM1*0/0 null phenotype has a frequency of greater than 50% among Caucasian, Chinese, and Indian populations, and sporadic reports over the years (many based on rather small sample sizes) indicate that it may be a slight risk factor for certain cancers based on increased sensitivity to particular chemical carcinogens.

? (C;C) (C;T) (T;T) 28
OMIM138350
DescGLUTATHIONE S-TRANSFERASE, MU-1; GSTM1
Variant
Relatedalso
[PMID 18496134OA-icon.png] Identification of genetic variants and gene expression relationships associated with pharmacogenes in humans.

[PMID 18948376OA-icon.png] Population-specific GSTM1 copy number variation.