Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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