rs113993959
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs74597325
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs149989682
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
A child with severe pneumomediastinum and ABCA3 gene mutation: a puzzling connection.
|
22304854 |
2012 |
rs149989682
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
ABCA3 mutations associated with pediatric interstitial lung disease.
|
15976379 |
2005 |
rs149989682
|
|
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 |
rs149989682
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
ATP-binding cassette member A3 (E292V) gene mutation and pulmonary morbidity in very-low-birth-weight infants.
|
22145626 |
2012 |
rs149989682
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Cerebropulmonary dysgenetic syndrome.
|
18603241 |
2008 |
rs876657633
|
|
TGG |
0.700 |
GeneticVariation |
CLINVAR |
Clinical, radiological and pathological features of ABCA3 mutations in children.
|
18024538 |
2008 |
rs149989682
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations.
|
24136335 |
2014 |
rs8182352
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Conditional analyses revealed a significant association for the NLRP1 rs8182352 variant with both anti-topoisomerase-positive and SSc-related fibrosing alveolitis (FA) subsets under an additive model: p=0.0042, OR 1.23 (95% CI 1.07 to 1.41) and p=0.0065 OR 1.19 (95% CI 1.05 to 1.36), respectively.
|
21149496 |
2011 |
rs149989682
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Genotype-phenotype correlations for infants and children with ABCA3 deficiency.
|
24871971 |
2014 |
rs876657633
|
|
TGG |
0.700 |
GeneticVariation |
CLINVAR |
Genotype-phenotype correlations for infants and children with ABCA3 deficiency.
|
24871971 |
2014 |
rs149989682
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Haplotype analysis of ABCA3: association with respiratory distress in very premature infants.
|
18246475 |
2008 |
rs149989682
|
|
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 |
rs149989682
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Heterozygosity for E292V in ABCA3, lung function and COPD in 64,000 individuals.
|
22866751 |
2012 |
rs2004640
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In a multivariate analysis model including the diffuse cutaneous subtype of SSc and positivity for anti-topoisomerase I antibodies, the IRF5 rs2004640 TT genotype remained associated with fibrosing alveolitis (P=0.029, OR 1.92, 95% CI 1.07-3.44).
|
19116937 |
2009 |
rs7574865
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Logistic regression analysis showed an additive effect of IRF5 rs2004640, STAT4 rs7574865 and NLRP1 rs8182352 risk alleles on SSc-related FA.
|
21149496 |
2011 |
rs149989682
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Polymorphism analysis of the ABCA3 gene: association with neonatal respiratory distress syndrome in preterm infants.
|
22800827 |
2012 |
rs149989682
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Population and disease-based prevalence of the common mutations associated with surfactant deficiency.
|
18317237 |
2008 |
rs149989682
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Sequencing of idiopathic pulmonary fibrosis-related genes reveals independent single gene associations.
|
25553246 |
2014 |
rs149989682
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome.
|
23166334 |
2012 |
rs149989682
|
|
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 |
rs149989682
|
|
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 |
rs5029939
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The strongest associations of rs5029939 with subphenotypes, having large magnitudes for complex genetic disorders, were observed for diffuse cutaneous SSc (pooled OR=2.71 (1.94 to 3.79), p=5.2×10⁻⁹), fibrosing alveolitis (pooled OR=2.26 (1.61 to 3.17), p=2.5×10⁻⁶) and pulmonary arterial hypertension (pooled OR=3.11 (1.86 to 5.17), p=1.3×10⁻⁵).
|
20511617 |
2010 |