rs143496559, HJV

N. diseases: 2
Disease: Hereditary hemochromatosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hereditary hemochromatosis
CUI: C0392514
Disease: Hereditary hemochromatosis
0.010 GeneticVariation BEFREE The HJV p.E302K and HAMP p.R59G variants, and the novel SLC40A1 p.G204S mutation may also be linked to primary iron overload but their role in the pathophysiology of HH remain to be elucidated. 21411349 2011