Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs117603931
rs117603931
ABCA3
CUI: C0852283
Disease: Respiratory Distress Syndrome
Respiratory Distress Syndrome 		0.010 GeneticVariation BEFREE Our objective was to functionally characterize two ABCA3 mutations (p.R288K and p.R1474W) identified among term and late-preterm infants with respiratory distress syndrome with unclear pathogenicity in a genetically versatile model system. 27374344

2016
dbSNP: rs146709251
rs146709251
ABCA3
CUI: C0852283
Disease: Respiratory Distress Syndrome
Respiratory Distress Syndrome 		0.010 GeneticVariation BEFREE Our objective was to functionally characterize two ABCA3 mutations (p.R288K and p.R1474W) identified among term and late-preterm infants with respiratory distress syndrome with unclear pathogenicity in a genetically versatile model system. 27374344

2016
dbSNP: rs149989682
rs149989682
ABCA3
CUI: C0852283
Disease: Respiratory Distress Syndrome
Respiratory Distress Syndrome 		0.010 GeneticVariation BEFREE Term infants carrying the E292V missense mutation of the gene encoding ABCA3 are likely to develop respiratory distress syndrome, and the mutation has also been linked to interstitial lung disease in paediatric patients. 22145626

2012