rs33950507, HBB

N. diseases: 8
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 0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04 0.810 1.000 17 1980 2017
beta^+^ Thalassemia
CUI: C3841475
Disease: beta^+^ Thalassemia
44 0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04 0.710 1.000 1 2015 2015
Hemoglobinopathies
CUI: C0019045
Disease: Hemoglobinopathies
43 0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04 0.700 1.000 7 1990 2011
Hemoglobin E disease
CUI: C0238159
Disease: Hemoglobin E disease
4 0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04 0.700 1.000 4 2011 2016
Anemia
CUI: C0002871
Disease: Anemia
94 0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04 0.700 0
Anemia, Sickle Cell
CUI: C0002895
Disease: Anemia, Sickle Cell
138 0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04 0.700 0
Hemoglobin E/beta thalassemia disease
CUI: C0472777
Disease: Hemoglobin E/beta thalassemia disease
1 0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04 0.700 0
Thalassemia
CUI: C0039730
Disease: Thalassemia
18 0.807 0.080 11 5226943 stop gained C/A;G;T snv 2.5E-04 0.010 1.000 1 2011 2011