rs193922555, 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 5226641 frameshift variant C/- delins 0.700 1.000 15 1989 2015
Cooley's anemia
CUI: C0002875
Disease: Cooley's anemia
19 0.925 0.080 11 5226641 frameshift variant C/- delins 0.700 0