rs116928232
|
|
G |
0.740 |
GeneticVariation |
CLINVAR |
|
|
|
rs1204744283
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs121965087
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1554864404
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1554865199
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1554865576
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1554869292
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1564751995
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs753796180
|
|
CGG |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs756016704
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs762559980
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs780495201
|
|
CA |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs797045094
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs587778878
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Permeability of gentamicin and polymyxin B into the inside of Bacillus subtilis spores.
|
2129132 |
1990 |
rs121965086
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Characterization of lysosomal acid lipase by site-directed mutagenesis and heterologous expression.
|
7499245 |
1995 |
rs121965086
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
Characterization of lysosomal acid lipase by site-directed mutagenesis and heterologous expression.
|
7499245 |
1995 |
rs116928232
|
|
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 |
rs770407719
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Since the residual LAL activity is higher and the clinical phenotype based on plasma lipid values and severity of hepatosplenomegaly is milder in this case than in a previously studied case who was homozygous for the E8SJM allele, we conclude that the L336P variant appears to be associated with a phenotypically mild form of CESD.
|
7773732 |
1995 |
rs1554865214
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
A histidine to tyrosine replacement in lysosomal acid lipase causes cholesteryl ester storage disease.
|
7833918 |
1994 |
rs121965086
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease.
|
8146180 |
1994 |
rs121965086
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease.
|
8146180 |
1994 |
rs1423914418
|
|
|
0.710 |
GeneticVariation |
UNIPROT |
Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease.
|
8146180 |
1994 |
rs780495201
|
|
CA |
0.700 |
GeneticVariation |
CLINVAR |
Mutations at the lysosomal acid cholesteryl ester hydrolase gene locus in Wolman disease.
|
8146180 |
1994 |
rs116928232
|
|
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 |
rs121965086
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
Occurrence of a mutation associated with Wolman disease in a family with cholesteryl ester storage disease.
|
8598644 |
1995 |