rs63749819, 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.
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
87 0.882 0.080 11 5227002 frameshift variant T/- del 1.6E-05 2.1E-05 0.700 1.000 8 1983 2012
Anemia, Sickle Cell
CUI: C0002895
Disease: Anemia, Sickle Cell
75 0.882 0.080 11 5227002 frameshift variant T/- del 1.6E-05 2.1E-05 0.700 0
beta^0^ Thalassemia
CUI: C0271980
Disease: beta^0^ Thalassemia
44 0.882 0.080 11 5227002 frameshift variant T/- del 1.6E-05 2.1E-05 0.700 0