HBG2, hemoglobin subunit gamma 2, 3048

N. diseases: 112; N. variants: 42
Disease: Congenital Methemoglobinemia ×
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: rs35103459
rs35103459 		0.925 0.040 11 5254330 missense variant G/A snv
CUI: C0272087
Disease: Congenital Methemoglobinemia
Congenital Methemoglobinemia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019