Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs876657633
rs876657633
TGG 0.700 GeneticVariation CLINVAR Genotype-phenotype correlations for infants and children with ABCA3 deficiency. 24871971

2014

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

2008