SLC40A1, solute carrier family 40 member 1, 30061

N. diseases: 101; N. variants: 31
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: rs387907377
rs387907377 		0.882 0.080 2 189565504 missense variant C/T snv 8.0E-06
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011