rs34889882, HBB

N. diseases: 3
Source: ALL
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.
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
103 0.882 0.080 11 5227004 frameshift variant AG/- del 7.0E-06 0.700 1.000 6 1989 2015
Anemia, Sickle Cell
CUI: C0002895
Disease: Anemia, Sickle Cell
138 0.882 0.080 11 5227004 frameshift variant AG/- del 7.0E-06 0.700 0
beta^0^ Thalassemia
CUI: C0271980
Disease: beta^0^ Thalassemia
49 0.882 0.080 11 5227004 frameshift variant AG/- del 7.0E-06 0.700 0