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: rs33927093
rs33927093
1.000 0.040 11 5225620 missense variant G/A;T snv
CUI: C0032461
Disease: Polycythemia
Polycythemia
Hemic and Lymphatic Diseases 0.010 1.000 1 1995 1995
dbSNP: rs35594230
rs35594230
1.000 0.040 11 5225626 missense variant G/A snv
CUI: C0032461
Disease: Polycythemia
Polycythemia
Hemic and Lymphatic Diseases 0.010 1.000 1 1995 1995