rs1800584

minus

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

Reference

GRCh38 38.1/141

Chromosome

6

Position

18130781

Gene

TPMT

is a	snp
is	mentioned by
dbSNP	rs1800584
dbSNP (classic)	rs1800584
ClinGen	rs1800584
ebi	rs1800584
HLI	rs1800584
Exac	rs1800584
Gnomad	rs1800584
Varsome	rs1800584
LitVar	rs1800584
Map	rs1800584
PheGenI	rs1800584
Biobank	rs1800584
1000 genomes	rs1800584
hgdp	rs1800584
ensembl	rs1800584
geneview	rs1800584
scholar	rs1800584
google	rs1800584
pharmgkb	rs1800584
gwascentral	rs1800584
openSNP	rs1800584
23andMe	rs1800584
SNPshot	rs1800584
SNPdbe	rs1800584
MSV3d	rs1800584
GWAS Ctlg	rs1800584

Max Magnitude

3.5

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 9486974 ]

[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,