Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: rs776472526
rs776472526
LIPA
T 0.710 GeneticVariation CLINVAR Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease. 10562460

1999