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rs1800462

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 3.5 incapable of detoxifying
(C;G) 2.5 detoxifying ability may be diminished
(G;G) 0 normal for 23andMe
ReferenceGRCh38 38.1/141
Chromosome6
Position18143724
GeneTPMT
is asnp
is mentioned by
dbSNPrs1800462
ebirs1800462
HLIrs1800462
Exacrs1800462
Varsomers1800462
Maprs1800462
PheGenIrs1800462
hapmaprs1800462
1000 genomesrs1800462
hgdprs1800462
ensemblrs1800462
gopubmedrs1800462
geneviewrs1800462
scholarrs1800462
googlers1800462
pharmgkbrs1800462
gwascentralrs1800462
openSNPrs1800462
23andMers1800462
23andMe allrs1800462
SNP Nexus

SNPshotrs1800462
SNPdbers1800462
MSV3drs1800462
GWAS Ctlgrs1800462
GMAF0.003673
Max Magnitude3.5
CPMC Logo.png

This SNP has been recognized by the Coriell Personalized Medicine Collaborative ICOB.
Additional information is available here

rs1800462, also known as A80P, is a rare SNP in the TPMT gene, potentially encoding a variant incapable of detoxifying byproducts of certain antineoplastic and immunosuppressant drugs. In general, individuals must have two nonfunctioning TPMT alleles for the toxicity to be pronounced.

The risk allele for this SNP (in orientation to the dbSNP entry) is rs1800462(C), and it encodes the TPMT*2 allele. It may occur at a frequency of 1 in 200 alleles among Caucasians.

[wikipedia] thiopurine drugs metabolized by TPMT include azathioprine, mercaptopurine, and thioguanine


[PMID 23133420OA-icon.png] Pharmacogenomic Diversity among Brazilians: Influence of Ancestry, Self-Reported Color, and Geographical Origin.

[PMID 22385887] High prevalence of polymorphism and low activity of thiopurine methyltransferase in patients with inflammatory bowel disease.

[PMID 18685564OA-icon.png] Genetic polymorphism of inosine triphosphate pyrophosphatase is a determinant of mercaptopurine metabolism and toxicity during treatment for acute lymphoblastic leukemia.

[PMID 18547414OA-icon.png] Genotyping panel for assessing response to cancer chemotherapy.




OMIM187680
Desc
Variant0001
Relatedalso


ClinVar
Risk rs1800462(C;C)
Alt rs1800462(C;C)
Reference rs1800462(G;G)
Significance Drug-response
Disease Thiopurine methyltransferase deficiency
Variation info
Gene TPMT
CLNDBN Thiopurine methyltransferase deficiency
Reversed 1
HGVS NC_000006.11:g.18143955C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000013558.2,