rs33930165, HBB

N. diseases: 5
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 0.120 11 5227003 missense variant C/G;T snv 9.2E-04; 4.4E-05 0.700 1.000 7 1982 2013
Corpuscular Hemoglobin Concentration Mean
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
4389 0.882 0.120 11 5227003 missense variant C/G;T snv 9.2E-04; 4.4E-05 0.700 1.000 1 2017 2017
Anemia, Sickle Cell
CUI: C0002895
Disease: Anemia, Sickle Cell
138 0.882 0.120 11 5227003 missense variant C/G;T snv 9.2E-04; 4.4E-05 0.700 0
HEMOGLOBIN C PHENOTYPE
CUI: C3889898
Disease: HEMOGLOBIN C PHENOTYPE
1 0.882 0.120 11 5227003 missense variant C/G;T snv 9.2E-04; 4.4E-05 0.700 0
Malaria
CUI: C0024530
Disease: Malaria
148 0.882 0.120 11 5227003 missense variant C/G;T snv 9.2E-04; 4.4E-05 0.010 1.000 1 2011 2011