SLC40A1, solute carrier family 40 member 1, 30061

N. diseases: 101; N. variants: 31
Disease: Hemochromatosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1449300685
rs1449300685
Entrez Id: 30061
Gene Symbol: SLC40A1
SLC40A1
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