rs36015961, 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.
Hemoglobinopathies
CUI: C0019045
Disease: Hemoglobinopathies
43 0.925 0.080 11 5225698 missense variant A/G snv 0.710 1.000 4 1994 2002
beta Thalassemia
CUI: C0005283
Disease: beta Thalassemia
103 0.925 0.080 11 5225698 missense variant A/G snv 0.700 1.000 6 1981 2004
Beta thalassemia intermedia
CUI: C0472767
Disease: Beta thalassemia intermedia
12 0.925 0.080 11 5225698 missense variant A/G snv 0.700 0