HAMP, hepcidin antimicrobial peptide, 57817

N. diseases: 377; N. variants: 15
Disease: HEMOCHROMATOSIS, TYPE 2B ×
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: rs104894696
rs104894696 		0.925 0.160 19 35284999 missense variant G/A snv 1.7E-03 1.9E-03
CUI: C1865616
Disease: HEMOCHROMATOSIS, TYPE 2B
HEMOCHROMATOSIS, TYPE 2B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 5 2003 2004
dbSNP: rs1462013476
rs1462013476 		1.000 0.080 19 35285020 missense variant G/A snv
CUI: C1865616
Disease: HEMOCHROMATOSIS, TYPE 2B
HEMOCHROMATOSIS, TYPE 2B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 5 2003 2004
dbSNP: rs779021719
rs779021719 		0.827 0.120 19 35284962 stop gained C/G;T snv 9.1E-05
CUI: C1865616
Disease: HEMOCHROMATOSIS, TYPE 2B
HEMOCHROMATOSIS, TYPE 2B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 5 2003 2004
dbSNP: rs104894695
rs104894695 		0.925 0.080 19 35284953 stop gained C/T snv
CUI: C1865616
Disease: HEMOCHROMATOSIS, TYPE 2B
HEMOCHROMATOSIS, TYPE 2B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1374259518
rs1374259518 		0.882 0.080 19 35284995 missense variant T/C snv
CUI: C1865616
Disease: HEMOCHROMATOSIS, TYPE 2B
HEMOCHROMATOSIS, TYPE 2B 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0