TFR2, transferrin receptor 2, 7036

N. diseases: 92; N. variants: 50
Disease: Hemochromatosis ×
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: rs34242818
rs34242818 		0.925 0.080 7 100633241 missense variant G/C snv 1.8E-02 4.0E-02
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2005 2005