rs34690599, HBB

N. diseases: 10
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 Spectrum of beta-thalassemia in Jordan: identification of two novel mutations. 11559932 2001
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
0.700 CausalMutation CLINVAR Specific transcription and RNA splicing defects in five cloned beta-thalassaemia genes. 6188062 1983
MALARIA, SUSCEPTIBILITY TO (finding)
CUI: C1970028
Disease: MALARIA, SUSCEPTIBILITY TO (finding)
0.700 CausalMutation CLINVAR
beta^+^ Thalassemia
CUI: C3841475
Disease: beta^+^ Thalassemia
0.700 CausalMutation CLINVAR
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1
CUI: C1841621
Disease: FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1
0.700 CausalMutation CLINVAR
ERYTHROCYTOSIS, FAMILIAL, 6
CUI: C4693822
Disease: ERYTHROCYTOSIS, FAMILIAL, 6
0.700 CausalMutation CLINVAR
Anemia, Sickle Cell
CUI: C0002895
Disease: Anemia, Sickle Cell
0.700 CausalMutation CLINVAR
Heinz Body Anemias
CUI: C0700299
Disease: Heinz Body Anemias
0.700 CausalMutation CLINVAR
alpha-Thalassemia
CUI: C0002312
Disease: alpha-Thalassemia
0.700 CausalMutation CLINVAR
Beta Thalassemia, Dominant Inclusion Body Type
CUI: C1858990
Disease: Beta Thalassemia, Dominant Inclusion Body Type
0.700 CausalMutation CLINVAR
METHEMOGLOBINEMIA, BETA TYPE
CUI: C4693797
Disease: METHEMOGLOBINEMIA, BETA TYPE
0.700 CausalMutation CLINVAR