rs1449300685, SLC40A1

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
HEMOCHROMATOSIS, TYPE 1
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
0.010 GeneticVariation BEFREE The <i>SLC40A1</i> R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism. 30002125 2018
Hemochromatosis
CUI: C0018995
Disease: Hemochromatosis
0.010 GeneticVariation BEFREE The <i>SLC40A1</i> R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism. 30002125 2018