Disease: IMMUNODEFICIENCY 47 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1557196978
rs1557196978
Entrez Id: 537
Gene Symbol: ATP6AP1
ATP6AP1
CUI: C4310819
Disease:
IMMUNODEFICIENCY 47 		G 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