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rs1801159

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0
Make rs1801159(A;G)
Make rs1801159(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position97515839
GeneDPYD
is asnp
is mentioned by
dbSNPrs1801159
ebirs1801159
HLIrs1801159
Exacrs1801159
Varsomers1801159
Maprs1801159
PheGenIrs1801159
hapmaprs1801159
1000 genomesrs1801159
hgdprs1801159
ensemblrs1801159
gopubmedrs1801159
geneviewrs1801159
scholarrs1801159
googlers1801159
pharmgkbrs1801159
gwascentralrs1801159
openSNPrs1801159
23andMers1801159
23andMe allrs1801159
SNP Nexus

SNPshotrs1801159
SNPdbers1801159
MSV3drs1801159
GWAS Ctlgrs1801159
GMAF0.2048
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene DPYD
allele C
frequency 0.19
sift TOLERATED
HuRef 1103675170701
Disease Association Defects in DPYD are the cause of dihydropyrimidine dehydrogenase deficiency (DPYD deficiency) (MIM:274270); also known as hereditary thymine-uraciluria or familial pyrimidinemia. DPYD deficiency is a disease characterized by persistent urinary excretion of excessive amounts of uracil, thymine and 5- hydroxymethyluracil. Patients suffering from this disease show a severe reaction to the anticancer drug 5-fluorouracil. This reaction includes stomatitis, Leukopenia, thrombocytopenia, hair loss, diarrhea, fever, marked weight loss, cerebellar ataxia, and neurologic symptoms, progressing to semicoma.




[PMID 19104657OA-icon.png] Strong association of a common dihydropyrimidine dehydrogenase gene polymorphism with fluoropyrimidine-related toxicity in cancer patients.


[PMID 21362212] [Detection of single nucleotide polymorphisms of mthfr and dpyd genes in leukemia cell lines K562 and K562/A02].


[PMID 25027354OA-icon.png] [Thymidine phosphorylase gene variant, platelet counts and survival in gastrointestinal cancer patients treated by fluoropyrimidines].


[PMID 23988873OA-icon.png] [Clinical Pharmacogenetics Implementation Consortium guidelines for dihydropyrimidine dehydrogenase genotype and fluoropyrimidine dosing].


[PMID 23942539] [Potential of dihydropyrimidine dehydrogenase genotypes in personalizing 5-fluorouracil therapy among colorectal cancer patients].


GET Evidence
DPYD-I543V
aa_change Ile543Val
aa_change_short I543V
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.184793
summary Increase incidence of nausea with fluoruracil.



ClinVar
Risk rs1801159(G;G)
Alt rs1801159(G;G)
Reference rs1801159(A;A)
Significance Non-pathogenic
Disease not provided not specified
Variation info
Gene DPYD
CLNDBN not provided not specified
Reversed 1
HGVS NC_000001.10:g.97981395T>C
CLNSRC ClinVar
CLNACC RCV000086475.1, RCV000174446.1,