Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs7574865
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

dbSNP: rs8182352
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

dbSNP: rs5029939
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

dbSNP: rs2004640
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

dbSNP: rs149989682
rs149989682
A 0.700 GeneticVariation CLINVAR Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations. 24136335

2014

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

2014

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

2014

dbSNP: rs149989682
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

dbSNP: rs876657633
rs876657633
TGG 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations for infants and children with ABCA3 deficiency. 24871971

2014

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

2012

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

2012

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

2012

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

2008

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

2008

dbSNP: rs149989682
rs149989682
A 0.700 GeneticVariation CLINVAR Cerebropulmonary dysgenetic syndrome. 18603241

2008

dbSNP: rs149989682
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

dbSNP: rs876657633
rs876657633
TGG 0.700 GeneticVariation CLINVAR Clinical, radiological and pathological features of ABCA3 mutations in children. 18024538

2008

dbSNP: rs149989682
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

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

2005

dbSNP: rs113993959
rs113993959
T 0.700 CausalMutation CLINVAR

dbSNP: rs74597325
rs74597325
T 0.700 CausalMutation CLINVAR