HFE, homeostatic iron regulator, 3077

N. diseases: 415; N. variants: 59
Disease: HEMOCHROMATOSIS, TYPE 1 ×
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: rs28934596
rs28934596 		1.000 0.080 6 26091078 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 18 1996 2008