Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs33950507
rs33950507
HBB
T 0.700 CausalMutation CLINVAR Clinical, Hematological and Molecular Analysis of Homozygous Hb E (HBB: c.79G > A) in the Indian Population. 26554862

2016
dbSNP: rs33950507
rs33950507
HBB
T 0.700 CausalMutation CLINVAR Molecular characterization of a β-thalassemia intermedia patient presenting inferior vena cava thrombosis: interaction of the β-globin erythroid Krüppel-like factor binding site mutation with Hb E and α(+)-thalassemia. 25370867

2014
dbSNP: rs33950507
rs33950507
HBB
T 0.700 CausalMutation CLINVAR A transgenic mouse model expressing exclusively human hemoglobin E: indications of a mild oxidative stress. 22260787

2012
dbSNP: rs33950507
rs33950507
HBB
T 0.700 CausalMutation CLINVAR Molecular analysis of globin gene expression in different thalassaemia disorders: individual variation of β(E) pre-mRNA splicing determine disease severity. 21732929

2011