rs34999973, 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 5227161 5 prime UTR variant G/A;C snv 4.2E-05 0.700 1.000 8 1992 2009
Beta thalassemia intermedia
CUI: C0472767
Disease: Beta thalassemia intermedia
12 0.882 0.080 11 5227161 5 prime UTR variant G/A;C snv 4.2E-05 0.700 0
beta^+^ Thalassemia
CUI: C3841475
Disease: beta^+^ Thalassemia
44 0.882 0.080 11 5227161 5 prime UTR variant G/A;C snv 4.2E-05 0.700 0