HBB, hemoglobin subunit beta, 3043

N. diseases: 272; N. variants: 188
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1564875331
rs1564875331
0.882 0.120 11 5226724 frameshift variant CATAA/TGATGCC delins
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
Hemic and Lymphatic Diseases 0.700 0