rs334, HBB

N. diseases: 35
Disease: beta Thalassemia ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
0.700 CausalMutation CLINVAR Hb S [β6(A3)Glu→Val, GAG>GTG] and β-globin gene cluster haplotype distribution in Mauritania. 22625666 2012
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
0.700 CausalMutation CLINVAR Bone marrow necrosis and sickle cell crisis associated with double heterozygosity for HbS and HbOARAB. 20954261 2011
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
0.700 CausalMutation CLINVAR In silico analysis of single nucleotide polymorphism (SNPs) in human β-globin gene. 22028795 2011
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
0.700 CausalMutation CLINVAR A novel sickling hemoglobinopathy. 22010933 2011
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
0.700 CausalMutation CLINVAR Newborn screening for hemoglobinopathies in California. 19061217 2009
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
0.700 CausalMutation CLINVAR A novel sickle cell mutation of yet another origin in Africa: the Cameroon type. 1376298 1992
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
0.700 CausalMutation CLINVAR Effect of amino acid at the beta 6 position on surface hydrophobicity, stability, solubility, and the kinetics of polymerization of hemoglobin. Comparisons among Hb A (Glu beta 6), Hb C (Lys beta 6), Hb Machida (Gln beta 6), and Hb S (Val beta 6). 2888754 1987
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
0.700 CausalMutation CLINVAR Clinical presentation of homozygous sickle cell disease. 2582106 1985
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
0.700 CausalMutation CLINVAR Origin of the beta S-globin gene in blacks: the contribution of recurrent mutation or gene conversion or both. 6583683 1984