rs1800584
From SNPedia
| Orientation | minus |
| Stabilized | 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 |
| rs1800584 | |
| pharmgkb | rs1800584 |
| gwascentral | rs1800584 |
| openSNP | rs1800584 |
| 23andMe | rs1800584 |
| SNPshot | rs1800584 |
| SNPdbe | rs1800584 |
| MSV3d | rs1800584 |
| GWAS Ctlg | rs1800584 |
| Max Magnitude | 3.5 |
| This SNP has been recognized by the Coriell Personalized Medicine Collaborative ICOB.
|
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, |
