rs2297595
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common on affy axiom data |
Make rs2297595(C;C) |
Make rs2297595(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 97699535 |
Gene | DPYD |
is a | snp |
is | mentioned by |
dbSNP | rs2297595 |
dbSNP (classic) | rs2297595 |
ClinGen | rs2297595 |
ebi | rs2297595 |
HLI | rs2297595 |
Exac | rs2297595 |
Gnomad | rs2297595 |
Varsome | rs2297595 |
LitVar | rs2297595 |
Map | rs2297595 |
PheGenI | rs2297595 |
Biobank | rs2297595 |
1000 genomes | rs2297595 |
hgdp | rs2297595 |
ensembl | rs2297595 |
geneview | rs2297595 |
scholar | rs2297595 |
rs2297595 | |
pharmgkb | rs2297595 |
gwascentral | rs2297595 |
openSNP | rs2297595 |
23andMe | rs2297595 |
SNPshot | rs2297595 |
SNPdbe | rs2297595 |
MSV3d | rs2297595 |
GWAS Ctlg | rs2297595 |
GMAF | 0.06612 |
Max Magnitude | 0 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
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 not specified Dihydropyrimidine dehydrogenase deficiency |
Variation | info |
Gene | DPYD |
CLNDBN | not provided fluorouracil response - Toxicity/ADR capecitabine response - Toxicity/ADR not specified Dihydropyrimidine dehydrogenase deficiency |
Reversed | 0 |
HGVS | NC_000001.10:g.98165091T>C |
CLNSRC | PharmGKB Clinical Annotation UniProtKB (protein) |
CLNACC | RCV000086499.1, RCV000211196.1, RCV000211377.1, RCV000245015.2, RCV000276917.1, |
[PMID 26216193] Genotype-phenotype correlations in 5-fluorouracil metabolism: a candidate DPYD haplotype to improve toxicity prediction