rs116855232

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	4	Much higher (>10x) risk for leukopenia if treated with thiopurines

Make rs116855232(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

13

Position

48045719

Gene

NUDT15

is a	snp
is	mentioned by
dbSNP	rs116855232
dbSNP (classic)	rs116855232
ClinGen	rs116855232
ebi	rs116855232
HLI	rs116855232
Exac	rs116855232
Gnomad	rs116855232
Varsome	rs116855232
LitVar	rs116855232
Map	rs116855232
PheGenI	rs116855232
Biobank	rs116855232
1000 genomes	rs116855232
hgdp	rs116855232
ensembl	rs116855232
geneview	rs116855232
scholar	rs116855232
google	rs116855232
pharmgkb	rs116855232
gwascentral	rs116855232
openSNP	rs116855232
23andMe	rs116855232
SNPshot	rs116855232
SNPdbe	rs116855232
MSV3d	rs116855232
GWAS Ctlg	rs116855232

Max Magnitude

4

c.415C>T, p.Arg139Cys, R139C; associated with poor response to azathioprine and mercaptopurine

The rs116855232(T) allele was strongly associated with thiopurine-induced early leukopenia (OR 35.6, p = 4.88 × 10e-94), based on a study of ~1000 Koreans, where this variant demonstrated sensitivity and specificity of 89.4% and 93.2%, respectively, for thiopurine-induced early leukopenia. This SNP was also strongly associated with thiopurine-induced leukopenia in subjects with inflammatory bowel disease of European descent (OR 9.5, p = 4.64 × 10e-4).[PMID 25108385 ]

OMIM	615792
Desc
Variant	0001
Related	also

ClinVar
Risk	rs116855232(T;T)
Alt	rs116855232(T;T)
Reference	Rs116855232(C;C)
Significance	Drug-response
Disease	Thiopurines mercaptopurine response - Dosage azathioprine response - Dosage
Variation	info
Gene	NUDT15
CLNDBN	Thiopurines, poor metabolism of, 2 mercaptopurine response - Dosage, Toxicity/ADR azathioprine response - Dosage, Toxicity/ADR
Reversed	0
HGVS	NC_000013.10:g.48619855C>T
CLNSRC	OMIM Allelic Variant PharmGKB Clinical Annotation
CLNACC	RCV000210853.1, RCV000211238.1, RCV000211416.1,