rs33985472, HBB

N. diseases: 3
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 GeneticVariation CLINVAR β -thalassemia intermedia in Northern Iraq: a single center experience. 24719849 2014
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
0.700 GeneticVariation CLINVAR Two mutations in the beta-globin polyadenylylation signal reveal extended transcripts and new RNA polyadenylylation sites. 1374896 1992
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
0.700 GeneticVariation CLINVAR Molecular studies of beta-thalassemia in Israel. Mutational analysis and expression studies. 1705411 1990
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
0.700 CausalMutation CLINVAR