rs33946267, HBB

N. diseases: 4
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 0.851 0.080 11 5225678 stop gained C/A;G;T snv 7.0E-04; 1.2E-05 0.700 1.000 21 1968 2017
Sickle cell-Hemoglobin O Arab disease
CUI: C1264000
Disease: Sickle cell-Hemoglobin O Arab disease
1 0.851 0.080 11 5225678 stop gained C/A;G;T snv 7.0E-04; 1.2E-05 0.700 1.000 8 1970 2014
Anemia, Sickle Cell
CUI: C0002895
Disease: Anemia, Sickle Cell
138 0.851 0.080 11 5225678 stop gained C/A;G;T snv 7.0E-04; 1.2E-05 0.700 0
Beta Thalassemia, Dominant Inclusion Body Type
CUI: C1858990
Disease: Beta Thalassemia, Dominant Inclusion Body Type
14 0.851 0.080 11 5225678 stop gained C/A;G;T snv 7.0E-04; 1.2E-05 0.700 0