Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs120074117
rs120074117
SMPD1
0.810 GeneticVariation UNIPROT SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants. 26499107

2016
dbSNP: rs120074117
rs120074117
SMPD1
0.810 GeneticVariation UNIPROT Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease. 27338287

2016
dbSNP: rs120074117
rs120074117
SMPD1
0.810 GeneticVariation UNIPROT Identification of seven novel SMPD1 mutations causing Niemann-Pick disease types A and B. 23252888

2013
dbSNP: rs120074117
rs120074117
SMPD1
0.810 GeneticVariation UNIPROT Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients. 22818240

2012
dbSNP: rs120074117
rs120074117
SMPD1
0.810 GeneticVariation UNIPROT Molecular genetic characterization of novel sphingomyelin phosphodiesterase 1 mutations causing niemann-pick disease. 23430884

2012
dbSNP: rs120074117
rs120074117
SMPD1
0.810 GeneticVariation UNIPROT Identification and characterization of eight novel SMPD1 mutations causing types A and B Niemann-Pick disease. 20386867

2010
dbSNP: rs120074117
rs120074117
SMPD1
0.810 GeneticVariation UNIPROT ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 19888064

2009
dbSNP: rs120074117
rs120074117
SMPD1
0.810 GeneticVariation UNIPROT Identification and characterization of SMPD1 mutations causing Niemann-Pick types A and B in Spanish patients. 19405096

2009
dbSNP: rs120074117
rs120074117
SMPD1
0.810 GeneticVariation UNIPROT Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models. 18815062

2008
dbSNP: rs120074117
rs120074117
SMPD1
0.810 GeneticVariation UNIPROT Carrier screening in individuals of Ashkenazi Jewish descent. 18197057

2008
dbSNP: rs120074117
rs120074117
SMPD1
T 0.810 CausalMutation CLINVAR Characterization of common SMPD1 mutations causing types A and B Niemann-Pick disease and generation of mutation-specific mouse models. 18815062

2008
dbSNP: rs120074117
rs120074117
SMPD1
T 0.810 CausalMutation CLINVAR Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. 17011332

2006
dbSNP: rs120074117
rs120074117
SMPD1
0.810 GeneticVariation UNIPROT 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: rs120074117
rs120074117
SMPD1
0.810 GeneticVariation UNIPROT Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1. 15221801

2004
dbSNP: rs120074117
rs120074117
SMPD1
T 0.810 CausalMutation CLINVAR Screening of 25 Italian patients with Niemann-Pick A reveals fourteen new mutations, one common and thirteen private, in SMPD1. 15221801

2004
dbSNP: rs120074117
rs120074117
SMPD1
0.810 GeneticVariation UNIPROT Seven novel acid sphingomyelinase gene mutations in Niemann-Pick type A and B patients. 12556236

2003
dbSNP: rs120074117
rs120074117
SMPD1
0.810 GeneticVariation UNIPROT Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency. 9266408

1997
dbSNP: rs120074117
rs120074117
SMPD1
0.810 GeneticVariation UNIPROT Identification and expression of a missense mutation (Y446C) in the acid sphingomyelinase gene from a Japanese patient with type A Niemann-Pick disease. 8693491

1995
dbSNP: rs120074117
rs120074117
SMPD1
0.810 GeneticVariation UNIPROT Two new mutations in the acid sphingomyelinase gene causing type a Niemann-pick disease: N389T and R441X. 8680412

1995
dbSNP: rs120074117
rs120074117
SMPD1
T 0.810 CausalMutation CLINVAR Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients. 1391960

1992
dbSNP: rs120074117
rs120074117
SMPD1
0.810 GeneticVariation UNIPROT Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients. 1391960

1992
dbSNP: rs120074117
rs120074117
SMPD1
0.810 GeneticVariation UNIPROT Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B Niemann-Pick disease. Molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic forms. 1618760

1992
dbSNP: rs120074117
rs120074117
SMPD1
A 0.810 GeneticVariation CLINVAR Identification and expression of a common missense mutation (L302P) in the acid sphingomyelinase gene of Ashkenazi Jewish type A Niemann-Pick disease patients. 1391960

1992
dbSNP: rs120074117
rs120074117
SMPD1
0.810 GeneticVariation UNIPROT Niemann-Pick disease: a frequent missense mutation in the acid sphingomyelinase gene of Ashkenazi Jewish type A and B patients. 2023926

1991
dbSNP: rs120074117
rs120074117
SMPD1
A 0.810 GeneticVariation CLINVAR The other cDNA clones from this patient had the R496L mutation previously identified in Type A Niemann-Pick disease patients. 1885770

1991