rs1450426641, GBA

N. diseases: 4
Disease: Gaucher Disease ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Gaucher Disease
CUI: C0017205
Disease: Gaucher Disease
0.010 GeneticVariation BEFREE The p.Trp378Gly mutation is the first French-Canadian founder GBA mutation to be described, which leads to synucleinopathies and to GD type 1 when in compound heterozygosity with p.Asn370Ser. 29920646 2018