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
