Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554866097
rs1554866097
T 0.700 GeneticVariation CLINVAR Large-scale functional LIPA variant characterization to improve birth prevalence estimates of lysosomal acid lipase deficiency. 31180157

2019

dbSNP: rs1554866097
rs1554866097
T 0.700 GeneticVariation CLINVAR Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction. 24792990

2014