rs33960103, 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 5226930 missense variant C/G;T snv 1.0E-04; 8.0E-06 0.700 1.000 18 1989 2016
Anemia, Sickle Cell
CUI: C0002895
Disease: Anemia, Sickle Cell
138 0.882 0.080 11 5226930 missense variant C/G;T snv 1.0E-04; 8.0E-06 0.700 0
Cooley's anemia
CUI: C0002875
Disease: Cooley's anemia
19 0.882 0.080 11 5226930 missense variant C/G;T snv 1.0E-04; 8.0E-06 0.700 0