Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918103
rs121918103
PSAP
0.800 GeneticVariation UNIPROT A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD). 10682309

2000
dbSNP: rs121918104
rs121918104
PSAP
0.800 GeneticVariation UNIPROT A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD). 10682309

2000
dbSNP: rs121918107
rs121918107
PSAP
0.800 GeneticVariation UNIPROT A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD). 10682309

2000
dbSNP: rs121918103
rs121918103
PSAP
0.800 GeneticVariation UNIPROT An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity. 10196694

1999
dbSNP: rs121918104
rs121918104
PSAP
0.800 GeneticVariation UNIPROT An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity. 10196694

1999
dbSNP: rs121918107
rs121918107
PSAP
0.800 GeneticVariation UNIPROT An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity. 10196694

1999
dbSNP: rs121918103
rs121918103
PSAP
0.800 GeneticVariation UNIPROT Sulfatide activator protein. Alternative splicing that generates three mRNAs and a newly found mutation responsible for a clinical disease. 2019586

1991
dbSNP: rs121918104
rs121918104
PSAP
0.800 GeneticVariation UNIPROT Sulfatide activator protein. Alternative splicing that generates three mRNAs and a newly found mutation responsible for a clinical disease. 2019586

1991
dbSNP: rs121918107
rs121918107
PSAP
0.800 GeneticVariation UNIPROT Sulfatide activator protein. Alternative splicing that generates three mRNAs and a newly found mutation responsible for a clinical disease. 2019586

1991
dbSNP: rs121918103
rs121918103
PSAP
0.800 GeneticVariation UNIPROT Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy. 2302219

1990
dbSNP: rs121918103
rs121918103
PSAP
A 0.800 GeneticVariation CLINVAR Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy. 2302219

1990
dbSNP: rs121918103
rs121918103
PSAP
A 0.800 GeneticVariation CLINVAR Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect. 2320574

1990
dbSNP: rs121918103
rs121918103
PSAP
0.800 GeneticVariation UNIPROT Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect. 2320574

1990
dbSNP: rs121918104
rs121918104
PSAP
0.800 GeneticVariation UNIPROT Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy. 2302219

1990
dbSNP: rs121918104
rs121918104
PSAP
0.800 GeneticVariation UNIPROT Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect. 2320574

1990
dbSNP: rs121918107
rs121918107
PSAP
0.800 GeneticVariation UNIPROT Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect. 2320574

1990
dbSNP: rs121918107
rs121918107
PSAP
0.800 GeneticVariation UNIPROT Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy. 2302219

1990
dbSNP: rs121918103
rs121918103
PSAP
A 0.800 CausalMutation CLINVAR

dbSNP: rs121918104
rs121918104
PSAP
G 0.800 CausalMutation CLINVAR

dbSNP: rs121918107
rs121918107
PSAP
G 0.800 CausalMutation CLINVAR

dbSNP: rs1431844269
rs1431844269
PSAP
C 0.700 GeneticVariation CLINVAR Late Infantile Metachromatic Leukodystrophy Due to Novel Pathogenic Variants in the PSAP Gene. 30632081

2019
dbSNP: rs1564815053
rs1564815053
PSAP
C 0.700 CausalMutation CLINVAR Late Infantile Metachromatic Leukodystrophy Due to Novel Pathogenic Variants in the PSAP Gene. 30632081

2019
dbSNP: rs770171865
rs770171865
PSAP
0.700 GeneticVariation UNIPROT A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD). 10682309

2000
dbSNP: rs770171865
rs770171865
PSAP
0.700 GeneticVariation UNIPROT An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity. 10196694

1999
dbSNP: rs770171865
rs770171865
PSAP
0.700 GeneticVariation UNIPROT Sulfatide activator protein. Alternative splicing that generates three mRNAs and a newly found mutation responsible for a clinical disease. 2019586

1991