Have questions? Visit https://www.reddit.com/r/SNPedia

rs2297595

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common on affy axiom data
Make rs2297595(C;C)
Make rs2297595(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position97699535
GeneDPYD
is asnp
is mentioned by
dbSNPrs2297595
ebirs2297595
HLIrs2297595
Exacrs2297595
Varsomers2297595
Maprs2297595
PheGenIrs2297595
hapmaprs2297595
1000 genomesrs2297595
hgdprs2297595
ensemblrs2297595
gopubmedrs2297595
geneviewrs2297595
scholarrs2297595
googlers2297595
pharmgkbrs2297595
gwascentralrs2297595
openSNPrs2297595
23andMers2297595
23andMe allrs2297595
SNP Nexus

SNPshotrs2297595
SNPdbers2297595
MSV3drs2297595
GWAS Ctlgrs2297595
GMAF0.06612
Max Magnitude0
? (C;C) (C;T) (T;T) 28


GET Evidence
DPYD-M166V
aa_change Met166Val
aa_change_short M166V
impact pharmacogenetic
qualified_impact High clinical importance, Likely pharmacogenetic
overall_frequency 0.0778955
summary Associated with DPYD deficiency and poor prognosis for chemotherapy w/ 5-flurorouracil.



ClinVar
Risk rs2297595(C;C)
Alt rs2297595(C;C)
Reference rs2297595(T;T)
Significance Drug-response
Disease not provided fluorouracil response - Toxicity/ADR capecitabine response - Toxicity/ADR
Variation info
Gene DPYD
CLNDBN not provided fluorouracil response - Toxicity/ADR capecitabine response - Toxicity/ADR
Reversed 0
HGVS NC_000001.10:g.98165091T>C
CLNSRC PharmGKB Clinical Annotation PharmGKB
CLNACC RCV000086499.1, RCV000211196.1, RCV000211377.1,



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