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rs116855232

From SNPedia

Orientationplus
Stabilizedplus
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)
ReferenceGRCh38.p2 38.2/147
Chromosome13
Position48045719
GeneNUDT15
is asnp
is mentioned by
dbSNPrs116855232
dbSNP (classic)rs116855232
ClinGenrs116855232
ebirs116855232
HLIrs116855232
Exacrs116855232
Gnomadrs116855232
Varsomers116855232
LitVarrs116855232
Maprs116855232
PheGenIrs116855232
Biobankrs116855232
1000 genomesrs116855232
hgdprs116855232
ensemblrs116855232
geneviewrs116855232
scholarrs116855232
googlers116855232
pharmgkbrs116855232
gwascentralrs116855232
openSNPrs116855232
23andMers116855232
23andMe allrs116855232
SNPshotrs116855232
SNPdbers116855232
MSV3drs116855232
GWAS Ctlgrs116855232
Max Magnitude4

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 25108385OA-icon.png]

OMIM615792
Desc
Variant0001
Relatedalso
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,