Gene: SMPD1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs120074117
rs120074117
SMPD1
0.720 GeneticVariation BEFREE Recently, a missense mutation in the ASM gene (designated R496L) was detected in more than 30% of the ASM alleles from Ashkenazi Jewish type A NPD patients. 1391960

1992
dbSNP: rs120074117
rs120074117
SMPD1
T 0.720 CausalMutation CLINVAR

dbSNP: rs120074117
rs120074117
SMPD1
0.720 GeneticVariation BEFREE Herein we describe detailed characterization of four common mutations (L302P, H421Y, R496L and DeltaR608) within the acid sphingomyelinase (ASM) gene causing types A and B Niemann-Pick disease (NPD). 18815062

2008
dbSNP: rs120074124
rs120074124
SMPD1
C 0.720 CausalMutation CLINVAR

dbSNP: rs120074124
rs120074124
SMPD1
0.720 GeneticVariation BEFREE The identification of the L302P mutation should further facilitate molecular carrier detection for NPD in the Ashkenazi Jewish population, particularly because the L302P mutation can be easily detected using the restriction enzyme, AlwNl. 1391960

1992
dbSNP: rs120074124
rs120074124
SMPD1
0.720 GeneticVariation BEFREE A founder mutation, p.L302P, in sphingomyelin phosphodiesterase 1, acid lysosomal (SMPD1), causing Niemann-Pick disease, a recessive lysosomal storage disorder, was reported to be associated with increased risk of Parkinson's disease (PD) in Ashkenazi Jewish population. 27814975

2017
dbSNP: rs797044800
rs797044800
SMPD1
0.710 GeneticVariation BEFREE Structural and functional analysis of the ASM p.Ala359Asp mutant that causes acid sphingomyelinase deficiency. 27659707

2016
dbSNP: rs797044800
rs797044800
SMPD1
A 0.710 CausalMutation CLINVAR Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B. 25920558

2016
dbSNP: rs120074118
rs120074118
SMPD1
T 0.700 CausalMutation CLINVAR The R608del mutation in the acid sphingomyelinase gene (SMPD1) is the most prevalent among patients from Gran Canaria Island with Niemann-Pick disease type B. 12694237

2003
dbSNP: rs120074118
rs120074118
SMPD1
T 0.700 CausalMutation CLINVAR The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study. 15545621

2004
dbSNP: rs120074126
rs120074126
SMPD1
T 0.700 CausalMutation CLINVAR The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations. 12369017

2002
dbSNP: rs182812968
rs182812968
SMPD1
T 0.700 CausalMutation CLINVAR

dbSNP: rs387906289
rs387906289
SMPD1
T 0.700 CausalMutation CLINVAR

dbSNP: rs747342458
rs747342458
SMPD1
C 0.700 CausalMutation CLINVAR The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations. 12369017

2002
dbSNP: rs797044797
rs797044797
SMPD1
C 0.700 CausalMutation CLINVAR

dbSNP: rs797044798
rs797044798
SMPD1
C 0.700 CausalMutation CLINVAR

dbSNP: rs797044799
rs797044799
SMPD1
A 0.700 CausalMutation CLINVAR Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study. 15877209

2005
dbSNP: rs797044799
rs797044799
SMPD1
A 0.700 CausalMutation CLINVAR Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. 17011332

2006
dbSNP: rs797044799
rs797044799
SMPD1
A 0.700 CausalMutation CLINVAR Niemann-Pick disease type A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292 K. 14681755

2003
dbSNP: rs1050228
rs1050228
SMPD1
0.010 GeneticVariation BEFREE Four novel p.N385K, p.V36A, c.1033-1034insT and c.1417-1418delCT mutations in the sphingomyelin Phosphodiesterase 1 (SMPD1) gene in patients with types A and B Niemann-Pick disease (NPD). 25811928

2015
dbSNP: rs120074120
rs120074120
SMPD1
0.010 GeneticVariation BEFREE Transient expression of the fsL178, L261X, and M382I mutations in COS-1 cells demonstrated that these lesions did not produce catalytically active ASM, consistent with the severe neuronopathic Type A NPD phenotype. 1618760

1992
dbSNP: rs120074121
rs120074121
SMPD1
0.010 GeneticVariation BEFREE Transient expression of the fsL178, L261X, and M382I mutations in COS-1 cells demonstrated that these lesions did not produce catalytically active ASM, consistent with the severe neuronopathic Type A NPD phenotype. 1618760

1992
dbSNP: rs1319643225
rs1319643225
SMPD1
0.010 GeneticVariation BEFREE Among four NPD type A patients we found two homozygotes for the g.1421C > T (H319Y) and g.3714T > C (Y537H) mutations and two compound heterozygotes, one for the g.3337T > C (F463S) and g.3373C > T (P475L) mutations and the other for the g.84delC (G29fsX74) and g.1208A > C (S248R) mutations. 12556236

2003
dbSNP: rs267607073
rs267607073
SMPD1
0.010 GeneticVariation BEFREE To elucidate the genetic heterogeneity of apoptotic induction in NPD cells, we investigated radiation-induced apoptosis of lymphoblasts in patients with type A (genotype: IVS3-2A-G/IVS3-2A-G) and type B (genotype: S436R/S436R) NPD. 12084440

2002
dbSNP: rs370129081
rs370129081
SMPD1
0.010 GeneticVariation BEFREE For this purpose, we have used cultured Niemann-Pick disease (NPD) lymphoid cells with a defined mutation (R600H) in the aSMase protein. 9516458

1998