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rs56161402

From SNPedia

known as R215H, encoding the TPMT*8 allele
Orientationplus
Stabilizedplus
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
ReferenceGRCh38 38.1/141
Chromosome6
Position18130762
GeneTPMT
is asnp
is mentioned by
dbSNPrs56161402
ebirs56161402
HLIrs56161402
Exacrs56161402
Varsomers56161402
Maprs56161402
PheGenIrs56161402
hapmaprs56161402
1000 genomesrs56161402
hgdprs56161402
ensemblrs56161402
gopubmedrs56161402
geneviewrs56161402
scholarrs56161402
googlers56161402
pharmgkbrs56161402
gwascentralrs56161402
openSNPrs56161402
23andMers56161402
23andMe allrs56161402
SNP Nexus

SNPshotrs56161402
SNPdbers56161402
MSV3drs56161402
GWAS Ctlgrs56161402
GMAF0.003673
Max Magnitude2.5
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

OMIM187680
Desc
Variant0006
Relatedalso
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
CLNACC RCV000013563.23,


GET Evidence
TPMT-R215H
aa_change Arg215His
aa_change_short R215H
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.00892525
summary