Gene: ABCA3 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909182
rs121909182
ABCA3
0.800 GeneticVariation UNIPROT ABCA3 gene mutations in newborns with fatal surfactant deficiency. 15044640

2004
dbSNP: rs121909183
rs121909183
ABCA3
0.800 GeneticVariation UNIPROT ABCA3 gene mutations in newborns with fatal surfactant deficiency. 15044640

2004
dbSNP: rs121909184
rs121909184
ABCA3
0.800 GeneticVariation UNIPROT ABCA3 gene mutations in newborns with fatal surfactant deficiency. 15044640

2004
dbSNP: rs28936691
rs28936691
ABCA3
0.800 GeneticVariation UNIPROT ABCA3 gene mutations in newborns with fatal surfactant deficiency. 15044640

2004
dbSNP: rs121909182
rs121909182
ABCA3
G 0.800 CausalMutation CLINVAR

dbSNP: rs121909183
rs121909183
ABCA3
G 0.800 CausalMutation CLINVAR

dbSNP: rs121909184
rs121909184
ABCA3
C 0.800 CausalMutation CLINVAR

dbSNP: rs28936691
rs28936691
ABCA3
G 0.800 CausalMutation CLINVAR

dbSNP: rs149989682
rs149989682
ABCA3
A 0.700 CausalMutation CLINVAR ABCA3 missense mutations causing surfactant dysfunction disorders have distinct cellular phenotypes. 29505158

2018
dbSNP: rs149989682
rs149989682
ABCA3
A 0.700 CausalMutation CLINVAR Functional Characterization of ATP-Binding Cassette Transporter A3 Mutations from Infants with Respiratory Distress Syndrome. 27374344

2016
dbSNP: rs149989682
rs149989682
ABCA3
A 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations for infants and children with ABCA3 deficiency. 24871971

2014
dbSNP: rs149989682
rs149989682
ABCA3
A 0.700 CausalMutation CLINVAR Genotype-phenotype correlations for infants and children with ABCA3 deficiency. 24871971

2014
dbSNP: rs149989682
rs149989682
ABCA3
A 0.700 CausalMutation CLINVAR Heterozygosity for E292V in ABCA3, lung function and COPD in 64,000 individuals. 22866751

2012
dbSNP: rs149989682
rs149989682
ABCA3
A 0.700 CausalMutation CLINVAR Respiratory syncytial virus potentiates ABCA3 mutation-induced loss of lung epithelial cell differentiation. 22434821

2012
dbSNP: rs149989682
rs149989682
ABCA3
A 0.700 CausalMutation CLINVAR A child with severe pneumomediastinum and ABCA3 gene mutation: a puzzling connection. 22304854

2012
dbSNP: rs149989682
rs149989682
ABCA3
A 0.700 GeneticVariation CLINVAR A child with severe pneumomediastinum and ABCA3 gene mutation: a puzzling connection. 22304854

2012
dbSNP: rs149989682
rs149989682
ABCA3
A 0.700 CausalMutation CLINVAR Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome. 23166334

2012
dbSNP: rs149989682
rs149989682
ABCA3
A 0.700 CausalMutation CLINVAR Population and disease-based prevalence of the common mutations associated with surfactant deficiency. 18317237

2008
dbSNP: rs149989682
rs149989682
ABCA3
A 0.700 CausalMutation CLINVAR Aberrant catalytic cycle and impaired lipid transport into intracellular vesicles in ABCA3 mutants associated with nonfatal pediatric interstitial lung disease. 18676873

2008
dbSNP: rs149989682
rs149989682
ABCA3
A 0.700 GeneticVariation CLINVAR Population and disease-based prevalence of the common mutations associated with surfactant deficiency. 18317237

2008
dbSNP: rs149989682
rs149989682
ABCA3
A 0.700 CausalMutation CLINVAR ABCA3 mutations associated with pediatric interstitial lung disease. 15976379

2005
dbSNP: rs149989682
rs149989682
ABCA3
A 0.700 GeneticVariation CLINVAR ABCA3 mutations associated with pediatric interstitial lung disease. 15976379

2005
dbSNP: rs121909181
rs121909181
ABCA3
T 0.700 CausalMutation CLINVAR

dbSNP: rs1567335355
rs1567335355
ABCA3
T 0.700 CausalMutation CLINVAR

dbSNP: rs775903641
rs775903641
ABCA3
G 0.700 CausalMutation CLINVAR