HAMP, hepcidin antimicrobial peptide, 57817

N. diseases: 377; N. variants: 15
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: rs1374259518
rs1374259518 		0.882 0.080 19 35284995 missense variant T/C snv
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs779021719
rs779021719 		0.827 0.120 19 35284962 stop gained C/G;T snv 9.1E-05
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