TFR2, transferrin receptor 2, 7036

N. diseases: 92; N. variants: 50
Disease: Juvenile 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: rs141943282
rs141943282 		1.000 0.080 7 100633541 synonymous variant C/A;T snv 4.2E-06
CUI: C0268060
Disease: Juvenile hemochromatosis
Juvenile hemochromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009