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rs1801160

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 3.5 5-fluorouracil toxicity (?)
(A;G) 2 Possible 5-fluorouracil toxicity
(G;G) 0 common/normal
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position97305364
GeneDPYD, DPYD-AS1
is asnp
is mentioned by
dbSNPrs1801160
ebirs1801160
HLIrs1801160
Exacrs1801160
Varsomers1801160
Maprs1801160
PheGenIrs1801160
hapmaprs1801160
1000 genomesrs1801160
hgdprs1801160
ensemblrs1801160
gopubmedrs1801160
geneviewrs1801160
scholarrs1801160
googlers1801160
pharmgkbrs1801160
gwascentralrs1801160
openSNPrs1801160
23andMers1801160
23andMe allrs1801160
SNP Nexus

SNPshotrs1801160
SNPdbers1801160
MSV3drs1801160
GWAS Ctlgrs1801160
Max Magnitude3.5

rs1801160, also known as V732I or p.Val732Ile, is a variant in the DPYD gene on chromosome 1.

A pharmacogenetic study of ~1,500 colon cancer patients treated with a 5-fluorouracil regimen concluded that patients with a rs1801160(A) allele were at roughly a 2-fold higher risk for an adverse effect (from the fluorouracil). The absolute frequencies of the various adverse effects varied; for example, neutropenia occurred in about 1 in 10 patients (so about 1 in 5 rs1801160(A) carriers).10.1001/jamaoncol.2015.5392


[PMID 26216193] Genotype-phenotype correlations in 5-fluorouracil metabolism: a candidate DPYD haplotype to improve toxicity prediction

ClinVar
Risk rs1801160(A;A)
Alt rs1801160(A;A)
Reference rs1801160(G;G)
Significance Untested
Disease not provided
Variation info
Gene DPYD-AS1 DPYD
CLNDBN not provided
Reversed 1
HGVS NC_000001.10:g.97770920C>T
CLNSRC
CLNACC RCV000086462.1,