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rs1801265

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs1801265(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position97883329
GeneDPYD
is asnp
is mentioned by
dbSNPrs1801265
ebirs1801265
HLIrs1801265
Exacrs1801265
Varsomers1801265
Maprs1801265
PheGenIrs1801265
hapmaprs1801265
1000 genomesrs1801265
hgdprs1801265
ensemblrs1801265
gopubmedrs1801265
geneviewrs1801265
scholarrs1801265
googlers1801265
pharmgkbrs1801265
gwascentralrs1801265
openSNPrs1801265
23andMers1801265
23andMe allrs1801265
SNP Nexus

SNPshotrs1801265
SNPdbers1801265
MSV3drs1801265
GWAS Ctlgrs1801265
GMAF0.2305
Max Magnitude0
? (C;C) (C;T) (T;T) 28
OMIM274270
DescDIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY
Variant0004
Relatedalso


Venter snp
Source plos
Gene DPYD
allele A
frequency 0.833
sift TOLERATED
HuRef 1103675171117
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.




OMIM612779
Desc
Variant0004
Relatedalso


ClinVar
Risk rs1801265(T;T)
Alt rs1801265(T;T)
Reference rs1801265(C;C)
Significance Pathogenic
Disease Dihydropyrimidine dehydrogenase deficiency not provided
Variation info
Gene DPYD
CLNDBN Dihydropyrimidine dehydrogenase deficiency not provided
Reversed 1
HGVS NC_000001.10:g.98348885G\x3d; NC_000001.10:g.98348885G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000000464.2, RCV000086506.1,



[PMID 17697348OA-icon.png] Technology to accelerate pangenomic scanning for unknown point mutations in exonic sequences: cycling temperature capillary electrophoresis (CTCE).

[PMID 18381459OA-icon.png] Genetic variation in the one-carbon transfer pathway and ovarian cancer risk.

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

[PMID 20570913OA-icon.png] Genetic variation in TYMS in the one-carbon transfer pathway is associated with ovarian carcinoma types in the Ovarian Cancer Association Consortium.


GET Evidence
DPYD-R29C
aa_change Arg29Cys
aa_change_short R29C
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.713887
summary This variant is also known as DPYD*9A, and is associated with Dihydropyrimidine dehydrogenase deficiency and impaired clearance of 5-fluorouracil with potential toxic consequence.



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