HBG2, hemoglobin subunit gamma 2, 3048

N. diseases: 112; N. variants: 42
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: rs7948471
rs7948471
1.000 0.080 11 5450516 intron variant G/A snv 0.47
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 1 2013 2013