Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1470452230
rs1470452230
Entrez Id: 5047
Gene Symbol: PAEP
PAEP
CUI: C0524910
Disease:
Hepatitis C, Chronic 		0.010 GeneticVariation BEFREE ITPA gene polymorphism (94C>A) effects on ribavirin-induced anemia during therapy in Egyptian patients with chronic hepatitis C. 28480960 2017
dbSNP: rs1470452230
rs1470452230
Entrez Id: 5047
Gene Symbol: PAEP
PAEP
CUI: C0002871
Disease:
Anemia 		0.010 GeneticVariation BEFREE ITPA gene polymorphism (94C>A) effects on ribavirin-induced anemia during therapy in Egyptian patients with chronic hepatitis C. 28480960 2017
dbSNP: rs1486872705
rs1486872705
Entrez Id: 5047
Gene Symbol: PAEP
PAEP
CUI: C0019189
Disease:
Hepatitis, Chronic 		0.010 GeneticVariation BEFREE Predominance of hepatitis C virus Q80K among NS3 baseline-resistance-associated amino acid variants in direct-antiviral-agent-naïve patients with chronic hepatitis: single-centre experience. 26249823 2015
dbSNP: rs1486872705
rs1486872705
Entrez Id: 5047
Gene Symbol: PAEP
PAEP
CUI: C0019196
Disease:
Hepatitis C 		0.010 GeneticVariation BEFREE Q80K was the most frequently reported one (41%), in both HIV/HCV-coinfected and HCV-monoinfected patients, but it was only detectable in cases of HCV-subtype 1a infection. 26249823 2015
dbSNP: rs1486872705
rs1486872705
Entrez Id: 5047
Gene Symbol: PAEP
PAEP
CUI: C4505456
Disease:
HIV Coinfection 		0.010 GeneticVariation BEFREE The aim of this study was to provide an estimate of Q80K prevalence at baseline in a study group of 205 DAA-naïve patients (21% of them with HIV coinfection) using NS3 full-population direct sequencing to detect resistance-associated amino acid variants (RAVs). 26249823 2015