TFR2, transferrin receptor 2, 7036

N. diseases: 92; N. variants: 50
Disease: HEMOCHROMATOSIS, TYPE 4 ×
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: rs1458641771
rs1458641771 		0.925 0.080 7 100632146 missense variant G/A snv 4.0E-06
CUI: C1853733
Disease: HEMOCHROMATOSIS, TYPE 4
HEMOCHROMATOSIS, TYPE 4 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014