Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1422720020
rs1422720020
SMPD1
TG 0.700 GeneticVariation CLINVAR Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease. 27338287

2016
dbSNP: rs1422720020
rs1422720020
SMPD1
TG 0.700 GeneticVariation CLINVAR Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease. 23356216

2013