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rs1800584

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 3.5 TPMT*4A homozygote; likely issues detoxifying certain drugs
(A;G) 3 TPMT*4A heterozygote; possible issues detoxifying certain drugs
(G;G) 0 common in complete genomics
ReferenceGRCh38 38.1/141
Chromosome6
Position18130781
GeneTPMT
is asnp
is mentioned by
dbSNPrs1800584
ebirs1800584
HLIrs1800584
Exacrs1800584
Varsomers1800584
Maprs1800584
PheGenIrs1800584
hapmaprs1800584
1000 genomesrs1800584
hgdprs1800584
ensemblrs1800584
gopubmedrs1800584
geneviewrs1800584
scholarrs1800584
googlers1800584
pharmgkbrs1800584
gwascentralrs1800584
openSNPrs1800584
23andMers1800584
23andMe allrs1800584
SNP Nexus

SNPshotrs1800584
SNPdbers1800584
MSV3drs1800584
GWAS Ctlgrs1800584
Max Magnitude3.5
CPMC Logo.png

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

rs1800584 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 rs1800584(A) SNP defines the TPMT*4A allele (OMIM).[PMID 9486974OA-icon.png]

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


? (A;G) (G;G)


ClinVar
Risk rs1800584(A;A)
Alt rs1800584(A;A)
Reference rs1800584(G;G)
Significance Drug-response
Disease Thiopurine methyltransferase deficiency
Variation info
Gene TPMT
CLNDBN Thiopurine methyltransferase deficiency
Reversed 1
HGVS NC_000006.11:g.18131012C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013560.18,