Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs6458375
rs6458375
Entrez Id: 2030
Gene Symbol: SLC29A1
SLC29A1
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs6458375
rs6458375
Entrez Id: 2030
Gene Symbol: SLC29A1
SLC29A1
CUI: C0427460
Disease:
Red cell distribution width determination
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs1131690802
rs1131690802
Entrez Id: 2030
Gene Symbol: SLC29A1
SLC29A1
CUI: C0014761
Disease:
Erythroblastosis, Fetal
C 0.700 CausalMutation CLINVAR
dbSNP: rs1131690802
rs1131690802
Entrez Id: 2030
Gene Symbol: SLC29A1
SLC29A1
CUI: C4023620
Disease:
Blood group antigen abnormality
C 0.700 CausalMutation CLINVAR
dbSNP: rs767108156
rs767108156
Entrez Id: 2030
Gene Symbol: SLC29A1
SLC29A1
CUI: C0009402
Disease:
Colorectal Carcinoma
0.700 GeneticVariation UNIPROT
dbSNP: rs760370
rs760370
Entrez Id: 2030
Gene Symbol: SLC29A1
SLC29A1
CUI: C0002871
Disease:
Anemia
0.030 GeneticVariation BEFREE Ribavirin-induced anemia was good predictor of sustained virological response (P = 0.001), but was not related to rs760370 polymorphism (P = 0.92). 28207300 2017
dbSNP: rs760370
rs760370
Entrez Id: 2030
Gene Symbol: SLC29A1
SLC29A1
CUI: C0002871
Disease:
Anemia
0.030 GeneticVariation BEFREE RBV-induced anemia was independently correlated with SLC29A1 rs760370 AA genotype (OR, 2.90; 95% CI, 1.29-6.54, P = 0.010), and the severity of IFN-induced thrombocytopenia was related to GG genotype (OR, 4.98; 95% CI, 1.27-19.61; P = 0.021); the detected effects held true for HCV-2a patients but weakened in HCV-1b patients. 26750805 2016
dbSNP: rs760370
rs760370
Entrez Id: 2030
Gene Symbol: SLC29A1
SLC29A1
CUI: C0002871
Disease:
Anemia
0.030 GeneticVariation BEFREE In patients with chronic hepatitis C receiving telaprevir-based therapy, SNP rs760370A>G at the SLC29A1 gene influences the severity of ribavirin-induced anaemia, possibly mirroring the erythrocyte uptake of ribavirin. 25583751 2015
dbSNP: rs760370
rs760370
Entrez Id: 2030
Gene Symbol: SLC29A1
SLC29A1
CUI: C0002871
Disease:
Anemia
0.030 GeneticVariation BEFREE In multivariate analysis, older age (P=0.03), lower baseline Hb concentration (P=0.02) and SLC29A1 rs760370 GG (P=0.02) were associated with the development of severe anaemia during treatment, whereas no association was found with ITPA SNPs in our population receiving telaprevir-based therapy. 25583751 2015
dbSNP: rs760370
rs760370
Entrez Id: 2030
Gene Symbol: SLC29A1
SLC29A1
CUI: C0019196
Disease:
Hepatitis C
0.010 GeneticVariation BEFREE Single Nucleotide rs760370 Polymorphism at the Main Ribavirin Transporter Gene Detection by PCR-RFLP Assay Compared with the TaqMan Assay and Its Relation to Sustained Virological Response in Chronic HCV Patients Treated with Pegylated Interferon-Ribavirin Therapy. 28207300 2017
dbSNP: rs760370
rs760370
Entrez Id: 2030
Gene Symbol: SLC29A1
SLC29A1
CUI: C0040034
Disease:
Thrombocytopenia
0.010 GeneticVariation BEFREE RBV-induced anemia was independently correlated with SLC29A1 rs760370 AA genotype (OR, 2.90; 95% CI, 1.29-6.54, P = 0.010), and the severity of IFN-induced thrombocytopenia was related to GG genotype (OR, 4.98; 95% CI, 1.27-19.61; P = 0.021); the detected effects held true for HCV-2a patients but weakened in HCV-1b patients. 26750805 2016
dbSNP: rs693955
rs693955
Entrez Id: 2030
Gene Symbol: SLC29A1
SLC29A1
CUI: C0023530
Disease:
Leukopenia
0.010 GeneticVariation BEFREE The DCTD rs9990999 AG/GG and SLC29A1 rs693955 CC genotypes were also significantly associated with shorter duration of neutropenia. 25735499 2015
dbSNP: rs693955
rs693955
Entrez Id: 2030
Gene Symbol: SLC29A1
SLC29A1
CUI: C0027947
Disease:
Neutropenia
0.010 GeneticVariation BEFREE The DCTD rs9990999 AG/GG and SLC29A1 rs693955 CC genotypes were also significantly associated with shorter duration of neutropenia. 25735499 2015
dbSNP: rs747199
rs747199
Entrez Id: 2030
Gene Symbol: SLC29A1
SLC29A1
CUI: C0023530
Disease:
Leukopenia
0.010 GeneticVariation BEFREE ADK (rs10824095) (P = 0.004, odds ratio [OR] = 6.220), SLC29A1 (rs747199) (P = 0.016, OR = 5.681), and TYMS (rs34743033) (P = 0.045, OR = 3.846) were associated with neutropenia. 26332308 2015
dbSNP: rs747199
rs747199
Entrez Id: 2030
Gene Symbol: SLC29A1
SLC29A1
CUI: C0027947
Disease:
Neutropenia
0.010 GeneticVariation BEFREE ADK (rs10824095) (P = 0.004, odds ratio [OR] = 6.220), SLC29A1 (rs747199) (P = 0.016, OR = 5.681), and TYMS (rs34743033) (P = 0.045, OR = 3.846) were associated with neutropenia. 26332308 2015
dbSNP: rs324148
rs324148
Entrez Id: 2030
Gene Symbol: SLC29A1
SLC29A1
CUI: C0393706
Disease:
Early infantile epileptic encephalopathy with suppression bursts
0.010 GeneticVariation BEFREE Post-induction overall survival (OS) significantly decreased in patients with the CC genotype of rs324148 compared with CT and TT genotypes (hazard ratio [HR] = 2.997 [95% confidence interval (CI): 1.71-5.27]). 25398670 2014
dbSNP: rs324148
rs324148
Entrez Id: 2030
Gene Symbol: SLC29A1
SLC29A1
CUI: C2936904
Disease:
Opitz GBBB Syndrome, X-Linked
0.010 GeneticVariation BEFREE Post-induction overall survival (OS) significantly decreased in patients with the CC genotype of rs324148 compared with CT and TT genotypes (hazard ratio [HR] = 2.997 [95% confidence interval (CI): 1.71-5.27]). 25398670 2014
dbSNP: rs324148
rs324148
Entrez Id: 2030
Gene Symbol: SLC29A1
SLC29A1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.010 GeneticVariation BEFREE Genotypes of rs9394992 and rs324148 may be independent prognostic predictors for the survival of AML patients. 25398670 2014
dbSNP: rs9394992
rs9394992
Entrez Id: 2030
Gene Symbol: SLC29A1
SLC29A1
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute
0.010 GeneticVariation BEFREE Genotypes of rs9394992 and rs324148 may be independent prognostic predictors for the survival of AML patients. 25398670 2014
dbSNP: rs45573936
rs45573936
Entrez Id: 2030
Gene Symbol: SLC29A1
SLC29A1
CUI: C0586323
Disease:
Alcohol Withdrawal Seizures
0.010 GeneticVariation BEFREE Functional role of the polymorphic 647 T/C variant of ENT1 (SLC29A1) and its association with alcohol withdrawal seizures. 21283641 2011