rs35662066, 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.
Hemoglobinopathies
CUI: C0019045
Disease: Hemoglobinopathies
43 0.925 0.080 11 5226971 frameshift variant G/- del 0.700 1.000 9 1984 2012
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
103 0.925 0.080 11 5226971 frameshift variant G/- del 0.700 1.000 3 1984 2011
beta^0^ Thalassemia
CUI: C0271980
Disease: beta^0^ Thalassemia
49 0.925 0.080 11 5226971 frameshift variant G/- del 0.700 0