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

2015
dbSNP: rs121965086
rs121965086
LIPA
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
LIPA
0.800 GeneticVariation UNIPROT Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease. 8146180

1994
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: rs1423914418
rs1423914418
LIPA
0.710 GeneticVariation UNIPROT Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease. 8146180

1994