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
Hemoglobinopathies
CUI: C0019045
Disease: Hemoglobinopathies
0.700 CausalMutation CLINVAR Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE). 20437613 2010
Hemoglobinopathies
CUI: C0019045
Disease: Hemoglobinopathies
0.700 CausalMutation CLINVAR Hemoglobinopathies in North Africa: a review. 20113284 2010
Hemoglobinopathies
CUI: C0019045
Disease: Hemoglobinopathies
0.700 CausalMutation CLINVAR Rapid detection of beta-globin gene mutations and polymorphisms by temporal temperature gradient gel electrophoresis. 12709369 2003
Hemoglobinopathies
CUI: C0019045
Disease: Hemoglobinopathies
0.700 CausalMutation CLINVAR A significant beta-thalassemia heterogeneity in the United Arab Emirates. 9140720 1997
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
Hemoglobinopathies
CUI: C0019045
Disease: Hemoglobinopathies
0.700 CausalMutation CLINVAR Evolution of a genetic disease in an ethnic isolate: beta-thalassemia in the Jews of Kurdistan. 1986379 1991
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
beta^+^ Thalassemia
CUI: C3841475
Disease: beta^+^ Thalassemia
0.700 CausalMutation CLINVAR