rs1557196978, ATP6AP1

N. diseases: 8
Disease: Abnormality of copper homeostasis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Abnormality of copper homeostasis
CUI: C4023689
Disease: Abnormality of copper homeostasis
0.700 CausalMutation CLINVAR Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG. 29396028 2018