rs7270101
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | |
| (C;C) | 3.3 | causative. Ribavirin-induced anemia iRibavirin-induced anemia during anti-hepatitis C virus therapy |
| Make rs7270101(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 20 |
| Position | 3213247 |
| Gene | ITPA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs7270101 |
| dbSNP (classic) | rs7270101 |
| ClinGen | rs7270101 |
| ebi | rs7270101 |
| HLI | rs7270101 |
| Exac | rs7270101 |
| Gnomad | rs7270101 |
| Varsome | rs7270101 |
| LitVar | rs7270101 |
| Map | rs7270101 |
| PheGenI | rs7270101 |
| Biobank | rs7270101 |
| 1000 genomes | rs7270101 |
| hgdp | rs7270101 |
| ensembl | rs7270101 |
| geneview | rs7270101 |
| scholar | rs7270101 |
| rs7270101 | |
| pharmgkb | rs7270101 |
| gwascentral | rs7270101 |
| openSNP | rs7270101 |
| 23andMe | rs7270101 |
| SNPshot | rs7270101 |
| SNPdbe | rs7270101 |
| MSV3d | rs7270101 |
| GWAS Ctlg | rs7270101 |
| GMAF | 0.07392 |
| Max Magnitude | 3.3 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
[PMID 20637204] ITPA Polymorphism Affects Ribavirin-induced Anemia and Outcome of Therapy - a Genome-wide Study of Japanese HCV Patients
[PMID 21274861
] Inosine triphosphatase genetic variants are protective against anemia during antiviral therapy for HCV2/3 but do not decrease dose reductions of RBV or increase SVR
[PMID 22118055] Single and combined IL28B, ITPA and SLC28A3 host genetic markers modulating response to anti-hepatitis C therapy
[PMID 22272297] Erythrocyte Inosine Triphosphatase Activity Is Decreased in HIV-Seropositive Individuals
[PMID 21703177] Genome-wide association study of interferon-related cytopenia in chronic hepatitis C patients
[PMID 22584257] Genetic variants at the ITPA locus protect against ribavirin-induced hemolytic anemia and dose reduction in an HCV G2/G3 cohort.
[PMID 18662289] Pharmacogenomic studies of the anticancer and immunosuppressive thiopurines mercaptopurine and azathioprine.
[PMID 20547162] Variants in the ITPA gene protect against ribavirin-induced hemolytic anemia and decrease the need for ribavirin dose reduction.
[PMID 22028438] Impact of inosine triphosphatase gene variants on the risk of anemia in HIV/hepatitis C virus-coinfected patients treated for chronic hepatitis C.
[PMID 22158703] Variants in the ITPA gene protect against ribavirin-induced hemolytic anemia in HIV/HCV-coinfected patients with all HCV genotypes.
[PMID 22406654] Inosine triphosphatase polymorphisms and ribavirin pharmacokinetics as determinants of ribavirin-associate anemia in patients receiving standard anti-HCV treatment.
[PMID 22430973] Association of ITPA gene polymorphisms and the risk of ribavirin-induced anemia in HIV/hepatitis C virus (HCV)-coinfected patients receiving HCV combination therapy.
[PMID 22613675] Comparison of three different methods for the evaluation of IL28 and ITPA polymorphisms in patients infected with HCV.
[PMID 23195617] Impact of genetic SLC28 transporter and ITPA variants on ribavirin serum level, hemoglobin drop and therapeutic response in patients with HCV infection
| GWAS snp | |
|---|---|
| PMID | [PMID 20173735] |
| Trait | Chronic Hepatitis C infection |
| Title | ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C. |
| Risk Allele | C |
| P-val | 9E-76 |
| Odds Ratio | NR NR |
[PMID 23933495] Association of ITPA polymorphisms rs6051702/rs1127354 instead of rs7270101/rs1127354 as predictor of ribavirin-associated anemia in chronic hepatitis C treated patients
[PMID 22585729] ITPA gene polymorphisms significantly affect hemoglobin decline and treatment outcomes in patients coinfected with HIV and HCV.
[PMID 23133602] Pharmacogenetics of efficacy and safety of HCV treatment in HCV-HIV coinfected patients: significant associations with IL28B and SOCS3 gene variants.
[PMID 23201294] Allelic inhibition of displacement activity: a simplified one tube allele-specific PCR for evaluation of ITPA polymorphisms.
[PMID 24304455] Inosine triphosphatase deficiency helps predict anaemia, anaemia management and response in chronic hepatitis C therapy
| ClinVar | |
|---|---|
| Risk | Rs7270101(C;C) |
| Alt | Rs7270101(C;C) |
| Reference | Rs7270101(A;A) |
| Significance | Other |
| Disease | Inosine triphosphatase deficiency ribavirin response - Toxicity/ADR peginterferon alfa-2b response - Toxicity/ADR peginterferon alfa-2b and ribavirin response - Toxicity/ADR |
| Variation | info |
| Gene | ITPA |
| CLNDBN | Inosine triphosphatase deficiency ribavirin response - Toxicity/ADR peginterferon alfa-2b response - Toxicity/ADR peginterferon alfa-2b and ribavirin response - Toxicity/ADR |
| Reversed | 0 |
| HGVS | NC_000020.10:g.3193893A>C |
| CLNSRC | OMIM Allelic Variant PharmGKB Clinical Annotation |
| CLNACC | RCV000015868.27, RCV000211155.1, RCV000211374.1, RCV000417134.1, |
[PMID 26071337] Role of ITPA and SLC28A2 genes in the prediction of anaemia associated with protease inhibitor plus ribavirin and peginterferon in hepatitis C treatment
[PMID 24841973] Distribution of genetic polymorphisms associated with hepatitis C virus (HCV) antiviral response in a multiethnic and admixed population
