Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554933780
rs1554933780
SMPD1
A 0.700 GeneticVariation CLINVAR A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B. 18625664

2008
dbSNP: rs1554933780
rs1554933780
SMPD1
A 0.700 GeneticVariation CLINVAR Acid sphingomyelinase-deficient Niemann-Pick disease: novel findings in a Greek child. 17876723

2007
dbSNP: rs1554933780
rs1554933780
SMPD1
A 0.700 GeneticVariation CLINVAR Functional in vitro characterization of 14 SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease. 16010684

2005