rs34483965, HBB

N. diseases: 2
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 0.925 0.080 11 5225733 splice region variant G/A;C;T snv 4.0E-06; 4.0E-06 0.700 1.000 5 1991 2015
Anemia, Sickle Cell
CUI: C0002895
Disease: Anemia, Sickle Cell
138 0.925 0.080 11 5225733 splice region variant G/A;C;T snv 4.0E-06; 4.0E-06 0.700 0