rs33951465, 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 5226947 splice region variant A/C;T snv 4.0E-06 0.700 1.000 4 1983 2013
Anemia, Sickle Cell
CUI: C0002895
Disease: Anemia, Sickle Cell
138 0.882 0.080 11 5226947 splice region variant A/C;T snv 4.0E-06 0.700 0
beta^+^ Thalassemia
CUI: C3841475
Disease: beta^+^ Thalassemia
44 0.882 0.080 11 5226947 splice region variant A/C;T snv 4.0E-06 0.700 0