rs56161402
From SNPedia
known as R215H, encoding the TPMT*8 allele |
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 1.5 | TPMT*8 heterozygote; possible issues detoxifying certain drugs |
(T;T) | 2.5 | TPMT*8 homozygote; likely issues detoxifying certain drugs |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 18130762 |
Gene | TPMT |
is a | snp |
is | mentioned by |
dbSNP | rs56161402 |
dbSNP (classic) | rs56161402 |
ClinGen | rs56161402 |
ebi | rs56161402 |
HLI | rs56161402 |
Exac | rs56161402 |
Gnomad | rs56161402 |
Varsome | rs56161402 |
LitVar | rs56161402 |
Map | rs56161402 |
PheGenI | rs56161402 |
Biobank | rs56161402 |
1000 genomes | rs56161402 |
hgdp | rs56161402 |
ensembl | rs56161402 |
geneview | rs56161402 |
scholar | rs56161402 |
rs56161402 | |
pharmgkb | rs56161402 |
gwascentral | rs56161402 |
openSNP | rs56161402 |
23andMe | rs56161402 |
SNPshot | rs56161402 |
SNPdbe | rs56161402 |
MSV3d | rs56161402 |
GWAS Ctlg | rs56161402 |
GMAF | 0.003673 |
Max Magnitude | 2.5 |
rs56161402, also known as R215H or Arg215His, is a relatively rare SNP in the TPMT gene. This SNP potentially encodes 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 rs56161402(T), and it encodes the TPMT*8 allele (OMIM). This SNP was first identified in African-Americans.[PMID 9931346]
[wikipedia] thiopurine drugs metabolized by TPMT include azathioprine, mercaptopurine, and thioguanine
23andMe name: i6019070
ClinVar | |
---|---|
Risk | Rs56161402(T;T) |
Alt | Rs56161402(T;T) |
Reference | Rs56161402(C;C) |
Significance | Drug-response |
Disease | Thiopurine methyltransferase deficiency |
Variation | info |
Gene | TPMT |
CLNDBN | Thiopurine methyltransferase deficiency |
Reversed | 0 |
HGVS | NC_000006.11:g.18130993C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013563.23, |