Variant: rs104894696

present in Gene: HAMP present in Chromosome: 19 Position on Chromosome: 35284999 Alleles of this Variant: G/A

rs104894696 in HAMP gene and HEMOCHROMATOSIS, TYPE 2B PMID 12915468 2003 Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis.

PMID 14630809 2004 Screening hepcidin for mutations in juvenile hemochromatosis: identification of a new mutation (C70R).

PMID 14670915 2004 HAMP as a modifier gene that increases the phenotypic expression of the HFE pC282Y homozygous genotype.

PMID 14633868 2003 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.

PMID 15099344 2004 A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis.