rs34451549, HBB

N. diseases: 4
Source: CURATED ×
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
87 0.851 0.080 11 5225923 intron variant G/A snv 4.9E-05 0.700 1.000 5 1984 2013
Anemia, Sickle Cell
CUI: C0002895
Disease: Anemia, Sickle Cell
75 0.851 0.080 11 5225923 intron variant G/A snv 4.9E-05 0.700 0
beta^0^ Thalassemia
CUI: C0271980
Disease: beta^0^ Thalassemia
44 0.851 0.080 11 5225923 intron variant G/A snv 4.9E-05 0.700 0
Cooley's anemia
CUI: C0002875
Disease: Cooley's anemia
7 0.851 0.080 11 5225923 intron variant G/A snv 4.9E-05 0.700 0