Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs116928232
rs116928232
LIPA
T 0.740 CausalMutation CLINVAR Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD). 7759067

1995
dbSNP: rs116928232
rs116928232
LIPA
T 0.740 CausalMutation CLINVAR A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease. 8254026

1993
dbSNP: rs116928232
rs116928232
LIPA
G 0.740 GeneticVariation CLINVAR

dbSNP: rs1423914418
rs1423914418
LIPA
0.710 GeneticVariation BEFREE The dosage of serum lysosomal acid lipase was undetectable and we found the presence of a rare homozygous mutation in the gene associated with the lysosomal acid lipase deficiency, (allele c.386A > G homozygous p.H129R). 31113597

2020
dbSNP: rs267607218
rs267607218
LIPA
A 0.710 CausalMutation CLINVAR Clinical Features of Lysosomal Acid Lipase Deficiency. 26252914

2015
dbSNP: rs776472526
rs776472526
LIPA
T 0.710 GeneticVariation CLINVAR New diagnostic method for lysosomal acid lipase deficiency and the need to recognize its manifestation in infants (Wolman disease). 24048164

2015
dbSNP: rs587778878
rs587778878
LIPA
A 0.710 CausalMutation CLINVAR Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups. 23424026

2013
dbSNP: rs587778878
rs587778878
LIPA
A 0.710 GeneticVariation CLINVAR Unfavorable outcome of hematopoietic stem cell transplantation in two siblings with Wolman disease due to graft failure and hepatic complications. 23583223

2013
dbSNP: rs1457072724
rs1457072724
LIPA
T 0.710 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: rs1457072724
rs1457072724
LIPA
0.710 GeneticVariation BEFREE 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: rs267607218
rs267607218
LIPA
0.710 GeneticVariation BEFREE The WD patients, all deceased before the first year of age, were homozygous for two novel mutations (c.299+1G>A and c.419G>A) or a mutation (c.796G>T) previously reported as compound heterozygosity in a CESD patient. 22227072

2012
dbSNP: rs267607218
rs267607218
LIPA
A 0.710 CausalMutation CLINVAR The WD patients, all deceased before the first year of age, were homozygous for two novel mutations (c.299+1G>A and c.419G>A) or a mutation (c.796G>T) previously reported as compound heterozygosity in a CESD patient. 22227072

2012
dbSNP: rs776472526
rs776472526
LIPA
0.710 GeneticVariation BEFREE 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: rs776472526
rs776472526
LIPA
T 0.710 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: rs587778878
rs587778878
LIPA
0.710 GeneticVariation BEFREE Wolman disease (LIPA p.G87V) genotype frequency in people of Iranian-Jewish ancestry. 21291321

2011
dbSNP: rs587778878
rs587778878
LIPA
A 0.710 CausalMutation CLINVAR Wolman disease (LIPA p.G87V) genotype frequency in people of Iranian-Jewish ancestry. 21291321

2011
dbSNP: rs587778878
rs587778878
LIPA
A 0.710 GeneticVariation CLINVAR Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease. 11441129

2001
dbSNP: rs587778878
rs587778878
LIPA
A 0.710 CausalMutation CLINVAR Characterization of lysosomal acid lipase mutations in the signal peptide and mature polypeptide region causing Wolman disease. 11441129

2001
dbSNP: rs776472526
rs776472526
LIPA
T 0.710 GeneticVariation CLINVAR Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease. 10562460

1999
dbSNP: rs1423914418
rs1423914418
LIPA
0.710 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: rs587778878
rs587778878
LIPA
A 0.710 CausalMutation CLINVAR New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease. 9684740

1998
dbSNP: rs587778878
rs587778878
LIPA
A 0.710 GeneticVariation CLINVAR New lysosomal acid lipase gene mutants explain the phenotype of Wolman disease and cholesteryl ester storage disease. 9684740

1998
dbSNP: rs267607218
rs267607218
LIPA
A 0.710 CausalMutation CLINVAR Genetic and biochemical evidence that CESD and Wolman disease are distinguished by residual lysosomal acid lipase activity. 8617513

1996
dbSNP: rs587778878
rs587778878
LIPA
A 0.710 GeneticVariation CLINVAR Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease. 8894696

1996
dbSNP: rs587778878
rs587778878
LIPA
A 0.710 CausalMutation CLINVAR Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease. 8894696

1996