Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs421016
rs421016
GBA
G 0.800 CausalMutation CLINVAR Functional analysis of 11 novel GBA alleles. 24022302

2014
dbSNP: rs421016
rs421016
GBA
G 0.800 CausalMutation CLINVAR A common and two novel GBA mutations in Thai patients with Gaucher disease. 23719189

2013
dbSNP: rs421016
rs421016
GBA
G 0.800 CausalMutation CLINVAR Novel mutations in the glucocerebrosidase gene of brazilian patients with Gaucher disease. 23430543

2013
dbSNP: rs421016
rs421016
GBA
G 0.800 CausalMutation CLINVAR Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1. 15605411

2005
dbSNP: rs421016
rs421016
GBA
G 0.800 CausalMutation CLINVAR Expression and functional characterization of mutated glucocerebrosidase alleles causing Gaucher disease in Spanish patients. 14757438

2004
dbSNP: rs421016
rs421016
GBA
C 0.800 GeneticVariation CLINVAR New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new NciI site the same as L444P. 7981693

1994