rs63750532, HBB

N. diseases: 3
Source: CURATED ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Hemoglobinopathies
CUI: C0019045
Disease: Hemoglobinopathies
35 0.925 0.080 11 5226780 frameshift variant A/- delins 0.700 1.000 3 1991 1997
Anemia, Sickle Cell
CUI: C0002895
Disease: Anemia, Sickle Cell
75 0.925 0.080 11 5226780 frameshift variant A/- delins 0.700 0
beta^0^ Thalassemia
CUI: C0271980
Disease: beta^0^ Thalassemia
44 0.925 0.080 11 5226780 frameshift variant A/- delins 0.700 0