rs1127354, ITPA

N. diseases: 26
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Anemia, Hemolytic
CUI: C0002878
Disease: Anemia, Hemolytic
0.040 GeneticVariation BEFREE Multivariate analysis showed that IPTA rs1127354 non-genotype CC, HCV genotype, a baseline HCV RNA level <4 × 10 IU/mL, IL-28B rs12979860 genotype CC, and low liver fibrosis were independent predictors for SVR during the combination therapy.IPTA rs1127354 variants and related ITPase were not only related with ribavirin-induced hemolytic anemia but also directly affected the SVR to PEG-IFN plus ribavirin combination therapy in Chinese HCV-infected patients. 28723780 2017
Anemia, Hemolytic
CUI: C0002878
Disease: Anemia, Hemolytic
0.040 GeneticVariation BEFREE Functional variants rs7270101 and rs1127354 of inosine triphosphatase (ITPA) were recently found to protect against ribavirin (RBV)-induced hemolytic anemia. 23933495 2013
Anemia, Hemolytic
CUI: C0002878
Disease: Anemia, Hemolytic
0.040 GeneticVariation BEFREE In addition, two functionally deficient variants (rs1127354 and rs7270101) of inosine triphosphatase (ITPA) were shown to protect against ribavirin (RBV) - induced hemolytic anemia during early stages of treatment. 22613675 2012
Anemia, Hemolytic
CUI: C0002878
Disease: Anemia, Hemolytic
0.040 GeneticVariation BEFREE These tag SNPs are in high linkage disequilibrium with 2 functional variants in the ITPA gene, rs1127354 and rs7270101, that cause ITPase deficiency and protect against ribavirin (RBV)-induced hemolytic anemia (HA). rs1127354 and rs7270101 showed strong independent associations with Pl reduction (p=10(-12), p=10(-7)) and entirely explained the genome-wide significant associations. 21703177 2012