Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs116928232
rs116928232
LIPA
G 0.740 GeneticVariation CLINVAR

dbSNP: rs1204744283
rs1204744283
LIPA
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121965087
rs121965087
LIPA
C 0.700 CausalMutation CLINVAR

dbSNP: rs1554864404
rs1554864404
LIPA
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1554865199
rs1554865199
LIPA
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1554865576
rs1554865576
LIPA
C 0.700 CausalMutation CLINVAR

dbSNP: rs1554869292
rs1554869292
LIPA
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1564751995
rs1564751995
LIPA
T 0.700 CausalMutation CLINVAR

dbSNP: rs753796180
rs753796180
LIPA
CGG 0.700 GeneticVariation CLINVAR

dbSNP: rs756016704
rs756016704
LIPA
T 0.700 CausalMutation CLINVAR

dbSNP: rs762559980
rs762559980
LIPA
A 0.700 CausalMutation CLINVAR

dbSNP: rs780495201
rs780495201
LIPA
CA 0.700 CausalMutation CLINVAR

dbSNP: rs797045094
rs797045094
LIPA
A 0.700 CausalMutation CLINVAR

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: rs939203331
rs939203331
UGT8
0.010 GeneticVariation BEFREE A further CESD patient was hemizygous for a His108-->Arg missense mutation (CAT-->CGT) in combination with a partial deletion of the LAL gene and was affected more severely. 9633819

1998
dbSNP: rs1554865214
rs1554865214
LIPA
A 0.700 GeneticVariation CLINVAR A histidine to tyrosine replacement in lysosomal acid lipase causes cholesteryl ester storage disease. 7833918

1994
dbSNP: rs1554865206
rs1554865206
LIPA
A 0.700 GeneticVariation CLINVAR A new mutation in the gene for lysosomal acid lipase leads to Wolman disease in an African kindred. 8864960

1996
dbSNP: rs779712562
rs779712562
LIPA
A 0.700 CausalMutation CLINVAR A novel lysosomal acid lipase gene mutation in a patient with cholesteryl ester storage disease. 9554751

1998
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
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: rs121965086
rs121965086
LIPA
G 0.800 CausalMutation CLINVAR Characterization of lysosomal acid lipase by site-directed mutagenesis and heterologous expression. 7499245

1995
dbSNP: rs121965086
rs121965086
LIPA
G 0.800 GeneticVariation CLINVAR Characterization of lysosomal acid lipase by site-directed mutagenesis and heterologous expression. 7499245

1995
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