Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1127354
rs1127354
0.900 GeneticVariation BEFREE Polymorphisms of inosine triphosphate pyrophosphatase (rs1127354 and rs6051702) and interferon lambda 4 (IFLN4) (rs12979860) are indicators of anemia and/or sustained virological response (SVR) in patients with chronic hepatitis C on ribavirin/interferon. 31359493

2020

dbSNP: rs1127354
rs1127354
0.900 GeneticVariation BEFREE The baseline haemoglobin and ITPA rs1127354 CA/AA have been found as predictors of anaemia at 4, 8 and 12 weeks of RBV therapy. 28543275

2017

dbSNP: rs1127354
rs1127354
0.900 GeneticVariation BEFREE In 106 patients treated with SOF/RBV therapy, this study assessed the effects of the ITPA polymorphism (rs1127354) on anemia, RBV dose reduction, and sustained virological response. 28109022

2017

dbSNP: rs1127354
rs1127354
0.900 GeneticVariation BEFREE ITPA gene polymorphism (94C>A) effects on ribavirin-induced anemia during therapy in Egyptian patients with chronic hepatitis C. 28480960

2017

dbSNP: rs1127354
rs1127354
0.900 GeneticVariation BEFREE The ITPA rs1127354 CC and rs6051702 AA genotypes may predict ribavirin-induced anemia during treatment with interferon-free, ribavirin-containing regimens. 26650626

2015

dbSNP: rs1127354
rs1127354
0.900 GeneticVariation BEFREE Anaemia was observed in 87.5% and 86.2% of treated patients with AA (rs7270101) and CC genotypes (rs1127354), respectively. 26154744

2015

dbSNP: rs1127354
rs1127354
0.900 GeneticVariation BEFREE The ITPA SNP rs1127354 is a useful predictor of ribavirin-induced anemia in Taiwanese patients and may be related to more severe decreases in platelet counts during the early stage of HCV combination therapy.(Gut Liver, 2015;9214-223). 25287171

2015

dbSNP: rs1127354
rs1127354
0.900 GeneticVariation BEFREE The incidence of severe anaemia, ≥ 3 g/dL reduction or <10 g/dL of haemoglobin (Hb) up to week 12, was more frequent in patients with CC at rs1127354 [65% (145/224), 33% (73/224)] than in those with CA/AA [25% (21/85), 6% (8/85)] (P < 0.0001). 24750345

2014

dbSNP: rs1127354
rs1127354
0.900 GeneticVariation BEFREE The inosine triphosphatase CC allele (rs1127354) was independently associated with the development of severe anaemia, and lower serum albumin level (<35 g/L) was associated with the occurrence of infection. 24099469

2013

dbSNP: rs1127354
rs1127354
0.900 GeneticVariation BEFREE ITPA rs1127354 CA genotype, when compared to CC genotype, was associated with lesser degree of anaemia throughout therapy (P < 0.05 for all time points). 23730840

2013

dbSNP: rs1127354
rs1127354
0.900 GeneticVariation BEFREE In conclusion, non-CC at rs1127354 without involvement of rs7270101 is strongly associated with protection from ribavirin-induced anemia, however, ITPA genotype is not associated with SVR. 23960450

2013

dbSNP: rs1127354
rs1127354
0.900 GeneticVariation BEFREE In multivariate logistic regression analyses the carrier of a variant allele in the rs6051702/rs1127354 association (OR=0.11, p=1.75×10(-5)) and Hb at baseline (OR=1.51, p=1.21×10(-4)) were independently associated with protection against clinically significant anemia at week 4. 23933495

2013

dbSNP: rs1127354
rs1127354
0.900 GeneticVariation BEFREE The aim of our study was to genotype patients for inosine triphosphatase gene polymorphism rs1127354 SNP (CC or CA) and associate treatment-induced anaemia with gene expression profile and genotypes. 22571903

2012

dbSNP: rs1127354
rs1127354
0.900 GeneticVariation BEFREE ITPA rs1127354 is useful for the prediction of ribavirin-induced anemia in the early phase after the commencement of peginterferon plus ribavirin treatment and IL28B rs8099917 is useful for the prediction of sustained virological response. 23012624

2012

dbSNP: rs1127354
rs1127354
0.900 GeneticVariation BEFREE However, the model could not be constructed, because no patients with rs1127354 minor genotype CA/AA had significant anemia. 23139603

2012

dbSNP: rs1127354
rs1127354
0.900 GeneticVariation BEFREE The ITPA variants were strongly and independently associated with protection from week 4 anemia (P = 10(-6) for rs1127354 and P = 10(-7) for rs7270101). 21274861

2011

dbSNP: rs1127354
rs1127354
0.900 GeneticVariation BEFREE Our data suggests that measures to prevent anemia should be considered for patients who have pretreatment hemoglobin levels less than 13.5 g/dl or who have rs1127354 genotype CC and pretreatment hemoglobin levels between 13.5 and 15 g/dl. 21503919

2011

dbSNP: rs1127354
rs1127354
0.900 GeneticVariation BEFREE Genotype 1b chronic hepatitis C patients (n=132) treated with pegylated interferon (PEG-IFN)-α and RBV for 48 weeks were genotyped for ITPA rs1127354 and examined for anaemia and treatment outcome. 21817190

2011

dbSNP: rs1127354
rs1127354
0.900 GeneticVariation BEFREE The role of rs1127354/rs7270101 alleles at the inosine triphosphatase (ITPA) gene on ribavirin-induced anemia was assessed in 74 patients with hepatitis C virus and human immunodeficiency virus coinfection. 22028438

2011

dbSNP: rs1127354
rs1127354
A 0.900 GeneticVariation GWASDB Multivariate analysis demonstrated that age, baseline Hb, baseline platelet count, and rs1127354 were independently associated with severe anemia (Hb <10 g/dL). 20637204

2010

dbSNP: rs1127354
rs1127354
A 0.900 GeneticVariation GWASCAT Multivariate analysis demonstrated that age, baseline Hb, baseline platelet count, and rs1127354 were independently associated with severe anemia (Hb <10 g/dL). 20637204

2010

dbSNP: rs1559810905
rs1559810905
A 0.700 CausalMutation CLINVAR An extremely severe case of Aicardi-Goutières syndrome 7 with a novel variant in IFIH1. 30965144

2020

dbSNP: rs776035233
rs776035233
T 0.700 CausalMutation CLINVAR Identification and functional analysis of missense mutations in the lecithin cholesterol acyltransferase gene in a Chilean patient with hypoalphalipoproteinemia. 31164121

2019

dbSNP: rs779114194
rs779114194
C 0.700 CausalMutation CLINVAR Identification and functional analysis of missense mutations in the lecithin cholesterol acyltransferase gene in a Chilean patient with hypoalphalipoproteinemia. 31164121

2019

dbSNP: rs987710
rs987710
0.700 GeneticVariation GWASCAT Genome-wide association study identifies genetic loci associated with iron deficiency. 21483845

2011