Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs149989682
rs149989682
ABCA3
A 0.700 GeneticVariation CLINVAR Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations. 24136335

2014
dbSNP: rs149989682
rs149989682
ABCA3
A 0.700 GeneticVariation CLINVAR Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations. 25553246

2014
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 GeneticVariation CLINVAR Single mutations in ABCA3 increase the risk for neonatal respiratory distress syndrome in late preterm infants (gestational age 34-36 weeks). 25073622

2014
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 GeneticVariation CLINVAR Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome. 23166334

2012
dbSNP: rs149989682
rs149989682
ABCA3
A 0.700 GeneticVariation CLINVAR Polymorphism analysis of the ABCA3 gene: association with neonatal respiratory distress syndrome in preterm infants. 22800827

2012
dbSNP: rs149989682
rs149989682
ABCA3
A 0.700 GeneticVariation CLINVAR Structural and dynamic aspects of Ca2+ and Mg2+ binding of the regulatory domains of the Na+/Ca2+ exchanger. 22435821

2012
dbSNP: rs149989682
rs149989682
ABCA3
A 0.700 GeneticVariation CLINVAR ATP-binding cassette member A3 (E292V) gene mutation and pulmonary morbidity in very-low-birth-weight infants. 22145626

2012
dbSNP: rs149989682
rs149989682
ABCA3
A 0.700 GeneticVariation CLINVAR Heterozygosity for E292V in ABCA3, lung function and COPD in 64,000 individuals. 22866751

2012
dbSNP: rs149989682
rs149989682
ABCA3
A 0.700 GeneticVariation CLINVAR Haplotype analysis of ABCA3: association with respiratory distress in very premature infants. 18246475

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 GeneticVariation CLINVAR Cerebropulmonary dysgenetic syndrome. 18603241

2008
dbSNP: rs149989682
rs149989682
ABCA3
A 0.700 GeneticVariation 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 Heterozygosity for ABCA3 mutations modifies the severity of lung disease associated with a surfactant protein C gene (SFTPC) mutation. 17597647

2007
dbSNP: rs149989682
rs149989682
ABCA3
A 0.700 GeneticVariation CLINVAR ABCA3 mutations associated with pediatric interstitial lung disease. 15976379

2005