rs1457072724, LIPA

N. diseases: 1
Disease: Wolman Disease ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Wolman Disease
CUI: C0043208
Disease: Wolman Disease
0.710 CausalMutation CLINVAR The c.894G>A mutation was found in homozygosity in four patients and, as compound heterozygosity, in association with a known (p.H295Y and p.G342R) or a novel (p.W140*) mutation in four other CESD patients. 22227072 2012
Wolman Disease
CUI: C0043208
Disease: Wolman Disease
0.710 GeneticVariation BEFREE The c.894G>A mutation was found in homozygosity in four patients and, as compound heterozygosity, in association with a known (p.H295Y and p.G342R) or a novel (p.W140*) mutation in four other CESD patients. 22227072 2012