Disease: Surfactant Metabolism Dysfunction, Pulmonary, 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909183
rs121909183
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C1970456
Disease:
Surfactant Metabolism Dysfunction, Pulmonary, 3 		0.800 GeneticVariation UNIPROT ABCA3 gene mutations in newborns with fatal surfactant deficiency. 15044640 2004
dbSNP: rs121909183
rs121909183
Entrez Id: 21
Gene Symbol: ABCA3
ABCA3
CUI: C1970456
Disease:
Surfactant Metabolism Dysfunction, Pulmonary, 3 		G 0.800 CausalMutation CLINVAR