rs1801160

minus

Geno	Mag	Summary
(A;A)	3.5	5-fluorouracil toxicity (?)
(A;G)	2	Possible 5-fluorouracil toxicity
(G;G)	0	common/normal

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

97305364

Gene	DPYD, DPYD-AS1

is a	snp
is	mentioned by
dbSNP	rs1801160
dbSNP (classic)	rs1801160
ClinGen	rs1801160
ebi	rs1801160
HLI	rs1801160
Exac	rs1801160
Gnomad	rs1801160
Varsome	rs1801160
LitVar	rs1801160
Map	rs1801160
PheGenI	rs1801160
Biobank	rs1801160
1000 genomes	rs1801160
hgdp	rs1801160
ensembl	rs1801160
geneview	rs1801160
scholar	rs1801160
google	rs1801160
pharmgkb	rs1801160
gwascentral	rs1801160
openSNP	rs1801160
23andMe	rs1801160
SNPshot	rs1801160
SNPdbe	rs1801160
MSV3d	rs1801160
GWAS Ctlg	rs1801160

Max Magnitude

3.5

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	Probable-non-pathogenic
Disease	not provided not specified Dihydropyrimidine dehydrogenase deficiency
Variation	info
Gene	DPYD-AS1 DPYD
CLNDBN	not provided not specified Dihydropyrimidine dehydrogenase deficiency
Reversed	1
HGVS	NC_000001.10:g.97770920C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000086462.1, RCV000249656.2, RCV000407597.1,

[PMID 29372689] DPYD genotype and haplotype analysis and colorectal cancer susceptibility in a case-control study from Slovakia.