TFR2, transferrin receptor 2, 7036

N. diseases: 92; N. variants: 50
Disease: Hereditary 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: rs750609759
rs750609759 		1.000 0.080 7 100627822 splice acceptor variant T/C snv 1.6E-05 7.0E-06
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2013 2015