rs80356820, HBB

N. diseases: 2
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 0.925 0.080 11 5226757 frameshift variant G/- delins 1.6E-05 0.700 1.000 7 1981 2015
beta^0^ Thalassemia
CUI: C0271980
Disease: beta^0^ Thalassemia
49 0.925 0.080 11 5226757 frameshift variant G/- delins 1.6E-05 0.700 0