Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28936691
rs28936691
ABCA3
CUI: C1970456
Disease: Surfactant Metabolism Dysfunction, Pulmonary, 3
Surfactant Metabolism Dysfunction, Pulmonary, 3 		0.800 GeneticVariation UNIPROT ABCA3 gene mutations in newborns with fatal surfactant deficiency. 15044640

2004