Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121965086
rs121965086
0.800 GeneticVariation UNIPROT Sebelipase alfa: first global approval. 26452566

2015

dbSNP: rs121965086
rs121965086
G 0.800 GeneticVariation CLINVAR Orthotopic liver transplantation in an adult with cholesterol ester storage disease. 23430518

2013

dbSNP: rs121965086
rs121965086
G 0.800 GeneticVariation CLINVAR Structural bases of Wolman disease and cholesteryl ester storage disease. 22138108

2012

dbSNP: rs121965086
rs121965086
G 0.800 GeneticVariation CLINVAR Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease. 10562460

1999

dbSNP: rs121965086
rs121965086
G 0.800 CausalMutation CLINVAR Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease. 10562460

1999

dbSNP: rs121965086
rs121965086
0.800 GeneticVariation UNIPROT Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals. 9633819

1998

dbSNP: rs121965086
rs121965086
G 0.800 GeneticVariation CLINVAR Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity. 8617513

1996

dbSNP: rs121965086
rs121965086
G 0.800 CausalMutation CLINVAR Characterization of lysosomal acid lipase by site-directed mutagenesis and heterologous expression. 7499245

1995

dbSNP: rs121965086
rs121965086
G 0.800 GeneticVariation CLINVAR Characterization of lysosomal acid lipase by site-directed mutagenesis and heterologous expression. 7499245

1995

dbSNP: rs121965086
rs121965086
G 0.800 GeneticVariation CLINVAR Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease. 8598644

1995

dbSNP: rs121965086
rs121965086
G 0.800 GeneticVariation CLINVAR Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease. 8146180

1994

dbSNP: rs121965086
rs121965086
0.800 GeneticVariation UNIPROT Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease. 8146180

1994

dbSNP: rs116928232
rs116928232
0.740 GeneticVariation BEFREE The commonest genetic cause of cholesteryl ester storage disease is an exon 8 splice junction variant in the LIPA gene (rs116928232, c.894G>A; E8SJM) previously found to have an allele frequency of 0.0011 (1 in 450 individuals) in a large European population. 30056760

2019

dbSNP: rs116928232
rs116928232
0.740 GeneticVariation BEFREE Meta-analysis of existing genetic studies estimated the prevalence of LAL-D as 1 per 160,000 (95% CI 1 per 65,025-761,652) using the allele frequency of c.894G>A in LIPA. 30315827

2019

dbSNP: rs116928232
rs116928232
T 0.740 CausalMutation CLINVAR Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia. 24072694

2013

dbSNP: rs116928232
rs116928232
0.740 GeneticVariation BEFREE Moreover, future studies on CESD prevalence in African and Asian populations may require full-gene LIPA sequencing to determine heterozygote frequencies, since c.894G>A is not common in these racial groups. 23424026

2013

dbSNP: rs116928232
rs116928232
T 0.740 CausalMutation CLINVAR Additionally, by surveying the available literature, c.894G>A was estimated to account for 60% (95% confidence interval [CI]: 51%-69%) of reported mutations among multiethnic CESD patients. 23424026

2013

dbSNP: rs116928232
rs116928232
T 0.740 CausalMutation CLINVAR Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. 23485521

2013

dbSNP: rs116928232
rs116928232
T 0.740 CausalMutation CLINVAR The c.894G>A mutation was found in homozygosity in four patients and, as compound heterozygosity, in association with a known (p.H295Y and p.G342R) or a novel (p.W140*) mutation in four other CESD patients. 22227072

2012

dbSNP: rs116928232
rs116928232
T 0.740 GeneticVariation CLINVAR The c.894G>A mutation was found in homozygosity in four patients and, as compound heterozygosity, in association with a known (p.H295Y and p.G342R) or a novel (p.W140*) mutation in four other CESD patients. 22227072

2012

dbSNP: rs116928232
rs116928232
T 0.740 GeneticVariation CLINVAR Lysosomal acid lipase deficiency impairs regulation of ABCA1 gene and formation of high density lipoproteins in cholesteryl ester storage disease. 21757691

2011

dbSNP: rs116928232
rs116928232
T 0.740 GeneticVariation CLINVAR Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease. 10562460

1999

dbSNP: rs116928232
rs116928232
0.740 GeneticVariation BEFREE Mutational analysis of the patient's blood showed the homozygous G-->A mutation at position -1 of the exon 8 splice donor site (E8SJM-allele) known for adult cholesteryl ester storage disease (CESD); the polymorphic background was that of the complex haplotype -6Thr, 2Gly, 894 G-->A. 10551400

1999

dbSNP: rs116928232
rs116928232
T 0.740 CausalMutation CLINVAR New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease. 9684740

1998

dbSNP: rs116928232
rs116928232
T 0.740 CausalMutation CLINVAR Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity. 8617513

1996