HAMP, hepcidin antimicrobial peptide, 57817

N. diseases: 377; N. variants: 15
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10414846
rs10414846
Entrez Id: 57817
Gene Symbol: HAMP
HAMP
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs10414846
rs10414846
Entrez Id: 57817
Gene Symbol: HAMP
HAMP
CUI: C0427460
Disease:
Red cell distribution width determination 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs10414846
rs10414846
Entrez Id: 57817
Gene Symbol: HAMP
HAMP
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs373214016
rs373214016
Entrez Id: 57817
Gene Symbol: HAMP
HAMP
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		GT 0.700 GeneticVariation GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
dbSNP: rs373214016
rs373214016
Entrez Id: 57817
Gene Symbol: HAMP
HAMP
CUI: C0427460
Disease:
Red cell distribution width determination 		GT 0.700 GeneticVariation GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
dbSNP: rs570714594
rs570714594
Entrez Id: 57817
Gene Symbol: HAMP
HAMP
CUI: C0427460
Disease:
Red cell distribution width determination 		T 0.700 GeneticVariation GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
dbSNP: rs570714594
rs570714594
Entrez Id: 57817
Gene Symbol: HAMP
HAMP
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result 		T 0.700 GeneticVariation GWASCAT Red blood cell distribution width: Genetic evidence for aging pathways in 116,666 volunteers. 28957414 2017
dbSNP: rs104894696
rs104894696
Entrez Id: 57817
Gene Symbol: HAMP
HAMP
CUI: C1865616
Disease:
HEMOCHROMATOSIS, TYPE 2B 		0.700 GeneticVariation UNIPROT A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis. 15099344 2004
dbSNP: rs104894696
rs104894696
Entrez Id: 57817
Gene Symbol: HAMP
HAMP
CUI: C1865616
Disease:
HEMOCHROMATOSIS, TYPE 2B 		0.700 GeneticVariation UNIPROT HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype. 14670915 2004
dbSNP: rs104894696
rs104894696
Entrez Id: 57817
Gene Symbol: HAMP
HAMP
CUI: C1865616
Disease:
HEMOCHROMATOSIS, TYPE 2B 		0.700 GeneticVariation UNIPROT Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R). 14630809 2004
dbSNP: rs1462013476
rs1462013476
Entrez Id: 57817
Gene Symbol: HAMP
HAMP
CUI: C1865616
Disease:
HEMOCHROMATOSIS, TYPE 2B 		0.700 GeneticVariation UNIPROT A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis. 15099344 2004
dbSNP: rs1462013476
rs1462013476
Entrez Id: 57817
Gene Symbol: HAMP
HAMP
CUI: C1865616
Disease:
HEMOCHROMATOSIS, TYPE 2B 		0.700 GeneticVariation UNIPROT HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype. 14670915 2004
dbSNP: rs1462013476
rs1462013476
Entrez Id: 57817
Gene Symbol: HAMP
HAMP
CUI: C1865616
Disease:
HEMOCHROMATOSIS, TYPE 2B 		0.700 GeneticVariation UNIPROT Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R). 14630809 2004
dbSNP: rs779021719
rs779021719
Entrez Id: 57817
Gene Symbol: HAMP
HAMP
CUI: C1865616
Disease:
HEMOCHROMATOSIS, TYPE 2B 		0.700 GeneticVariation UNIPROT A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis. 15099344 2004
dbSNP: rs779021719
rs779021719
Entrez Id: 57817
Gene Symbol: HAMP
HAMP
CUI: C1865616
Disease:
HEMOCHROMATOSIS, TYPE 2B 		0.700 GeneticVariation UNIPROT HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype. 14670915 2004
dbSNP: rs779021719
rs779021719
Entrez Id: 57817
Gene Symbol: HAMP
HAMP
CUI: C1865616
Disease:
HEMOCHROMATOSIS, TYPE 2B 		0.700 GeneticVariation UNIPROT Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R). 14630809 2004
dbSNP: rs104894696
rs104894696
Entrez Id: 57817
Gene Symbol: HAMP
HAMP
CUI: C1865616
Disease:
HEMOCHROMATOSIS, TYPE 2B 		0.700 GeneticVariation UNIPROT Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. 12915468 2003
dbSNP: rs104894696
rs104894696
Entrez Id: 57817
Gene Symbol: HAMP
HAMP
CUI: C1865616
Disease:
HEMOCHROMATOSIS, TYPE 2B 		0.700 GeneticVariation UNIPROT Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload. 14633868 2003
dbSNP: rs1462013476
rs1462013476
Entrez Id: 57817
Gene Symbol: HAMP
HAMP
CUI: C1865616
Disease:
HEMOCHROMATOSIS, TYPE 2B 		0.700 GeneticVariation UNIPROT Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload. 14633868 2003
dbSNP: rs1462013476
rs1462013476
Entrez Id: 57817
Gene Symbol: HAMP
HAMP
CUI: C1865616
Disease:
HEMOCHROMATOSIS, TYPE 2B 		0.700 GeneticVariation UNIPROT Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. 12915468 2003
dbSNP: rs779021719
rs779021719
Entrez Id: 57817
Gene Symbol: HAMP
HAMP
CUI: C1865616
Disease:
HEMOCHROMATOSIS, TYPE 2B 		0.700 GeneticVariation UNIPROT Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis. 12915468 2003
dbSNP: rs779021719
rs779021719
Entrez Id: 57817
Gene Symbol: HAMP
HAMP
CUI: C1865616
Disease:
HEMOCHROMATOSIS, TYPE 2B 		0.700 GeneticVariation UNIPROT Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload. 14633868 2003
dbSNP: rs104894695
rs104894695
Entrez Id: 57817
Gene Symbol: HAMP
HAMP
CUI: C1865616
Disease:
HEMOCHROMATOSIS, TYPE 2B 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1374259518
rs1374259518
Entrez Id: 57817
Gene Symbol: HAMP
HAMP
CUI: C1865616
Disease:
HEMOCHROMATOSIS, TYPE 2B 		0.700 GeneticVariation UNIPROT
dbSNP: rs763369315
rs763369315
Entrez Id: 57817
Gene Symbol: HAMP
HAMP
CUI: C3469186
Disease:
HEMOCHROMATOSIS, TYPE 1 		A 0.700 CausalMutation CLINVAR