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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
dbSNP (old)rs1801265
ClinGenrs1801265
ebirs1801265
HLIrs1801265
Exacrs1801265
Gnomadrs1801265
Varsomers1801265
Maprs1801265
PheGenIrs1801265
Biobankrs1801265
1000 genomesrs1801265
hgdprs1801265
ensemblrs1801265
gopubmedrs1801265
geneviewrs1801265
scholarrs1801265
googlers1801265
pharmgkbrs1801265
gwascentralrs1801265
openSNPrs1801265
23andMers1801265
23andMe allrs1801265
SNPshotrs1801265
SNPdbers1801265
MSV3drs1801265
GWAS Ctlgrs1801265
GMAF0.2305
Max Magnitude0
? (C;C) (C;T) (T;T) 28
OMIM274270
DescDIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY
Variant0004
Relatedalso



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 UniProtKB (protein)
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.



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