rs56161402

known as R215H, encoding the TPMT*8 allele

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
google	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

OMIM	187680
Desc
Variant	0006
Related	also

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,