Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs421016
rs421016
GBA
0.730 GeneticVariation BEFREE α-Synuclein accumulation and GBA deficiency due to L444P GBA mutation contributes to MPTP-induced parkinsonism. 29310663

2018
dbSNP: rs421016
rs421016
GBA
0.730 GeneticVariation BEFREE Six GD3 patients, all homoallelic for L444P GBA1 mutations, have lived beyond 40years of age; and none has developed Parkinsonism. 27789132

2018
dbSNP: rs421016
rs421016
GBA
0.730 GeneticVariation BEFREE Our findings in a representative series of index cases from families with ADPD emphasize the important contribution of LRRK2 G2019S and GBA (L444P and N370S) mutations to parkinsonism in Brazilian families. 27777137

2016
dbSNP: rs421016
rs421016
GBA
G 0.730 SusceptibilityMutation CLINVAR