rs1801265
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (T;T) | 0 | common in clinvar |
| Make rs1801265(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 97883329 |
| Gene | DPYD |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1801265 |
| dbSNP (classic) | rs1801265 |
| ClinGen | rs1801265 |
| ebi | rs1801265 |
| HLI | rs1801265 |
| Exac | rs1801265 |
| Gnomad | rs1801265 |
| Varsome | rs1801265 |
| LitVar | rs1801265 |
| Map | rs1801265 |
| PheGenI | rs1801265 |
| Biobank | rs1801265 |
| 1000 genomes | rs1801265 |
| hgdp | rs1801265 |
| ensembl | rs1801265 |
| geneview | rs1801265 |
| scholar | rs1801265 |
| rs1801265 | |
| pharmgkb | rs1801265 |
| gwascentral | rs1801265 |
| openSNP | rs1801265 |
| 23andMe | rs1801265 |
| SNPshot | rs1801265 |
| SNPdbe | rs1801265 |
| MSV3d | rs1801265 |
| GWAS Ctlg | rs1801265 |
| GMAF | 0.2305 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
| 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 17697348
] Technology to accelerate pangenomic scanning for unknown point mutations in exonic sequences: cycling temperature capillary electrophoresis (CTCE).
[PMID 18381459] Genetic variation in the one-carbon transfer pathway and ovarian cancer risk.
[PMID 19104657] Strong association of a common dihydropyrimidine dehydrogenase gene polymorphism with fluoropyrimidine-related toxicity in cancer patients.
[PMID 20570913] 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
[PMID 29372689] DPYD genotype and haplotype analysis and colorectal cancer susceptibility in a case-control study from Slovakia.
