rs34451549, HBB

N. diseases: 4
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 Hemoglobinopathy: molecular epidemiological characteristics and health effects on Hakka people in the Meizhou region, southern China. 23383304 2013
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
0.700 CausalMutation CLINVAR Molecular basis and haematological characterization of beta-thalassaemia major in Taiwan, with a mutation of IVS-1 3' end TAG-->GAG in a Chinese patient. 8435318 1993
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
0.700 CausalMutation CLINVAR The spectrum of beta-thalassemia mutations in Taiwan: identification of a novel frameshift mutation. 2014803 1991
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
0.700 CausalMutation CLINVAR The spectrum of beta-thalassemia genes in China and Southeast Asia. 2875755 1986
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
0.700 CausalMutation CLINVAR Pathological effects of sickle cell anemia on the pulp. 6585381 1984
beta^0^ Thalassemia
CUI: C0271980
Disease: beta^0^ Thalassemia
0.700 CausalMutation CLINVAR
Cooley's anemia
CUI: C0002875
Disease: Cooley's anemia
0.700 CausalMutation CLINVAR
Anemia, Sickle Cell
CUI: C0002895
Disease: Anemia, Sickle Cell
0.700 CausalMutation CLINVAR