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 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 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 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

dbSNP: rs1057519629
rs1057519629
T 0.700 CausalMutation CLINVAR Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations. 27541164

2016

dbSNP: rs1057518882
rs1057518882
CYTB ; ND5 ; ND6
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555507479
rs1555507479
A 0.700 GeneticVariation CLINVAR

dbSNP: rs2230288
rs2230288
GBA
T 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs756677845
rs756677845
C 0.700 CausalMutation CLINVAR

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE G2019S-LRRK2 mutation enhances MPTP-linked Parkinsonism in mice. 31813996

2020

dbSNP: rs63750756
rs63750756
0.100 GeneticVariation BEFREE [<sup>11</sup> C]PBB3-PET can capture four-repeat tau pathologies characteristic of N279K mutant frontotemporal dementia and parkinsonism linked to chromosome 17/MAPT. 30773680

2019

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE We suggested that lovastatin is a potential disease-modifying agent for LRRK2-G2019S parkinsonism. 26931464

2016

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association study. 27692902

2016

dbSNP: rs34637584
rs34637584
0.100 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: rs63750756
rs63750756
0.100 GeneticVariation BEFREE As a result, 2 novel mutations in MAPT (p.D177V and p.P513A) were identified in a sporadic and familial patient with PNFA respectively, and one known mutation in MAPT (p.N279K) was detected in an FTD-parkinsonism family. 27311648

2016

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE The present study also establishes that G2019S mutation leads to a reduction in lysosomal pH and increased expression of the lysosomal ATPase ATP13A2, a gene linked to a parkinsonian syndrome (Kufor-Rakeb syndrome), in brain samples from mouse and human LRRK2 G2019S carriers. 26251043

2015

dbSNP: rs63750756
rs63750756
0.100 GeneticVariation BEFREE However, exome sequencing identified a missense mutation, N279K, in exon 10 of MAPT gene, verifying that the early parkinsonian symptoms in this family are caused by the genetic mutation for hereditary frontotemporal lobar dementia. 26295349

2015

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE LRRK2 p.G2019S mutation is a useful aid to diagnosis and modifiers of disease in LRRK2 parkinsonism may aid in developing therapeutic targets. 24355527

2014

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE Twelve- to sixteen-month-old (G2019S) LRRK2 transgenic mice prepared by us displayed progressive degeneration of substantia nigra pars compacta (SNpc) dopaminergic neurons and parkinsonism phenotypes of motor dysfunction. 22539006

2012

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE We aim to characterize these compensatory mechanisms and early disease-related changes by quantifying movement-related cerebral function in subjects at significantly increased risk of developing Parkinson's disease, namely carriers of a leucine-rich repeat kinase 2-G2019S mutation associated with dominantly inherited parkinsonism. 23250886

2012

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE Although effective deep brain stimulation of the subthalamic nucleus (STN-DBS) is reported in G2019S leucine-rich repeat kinase 2 (LRRK2) parkinsonism, response to surgery in other LRRK2 mutations has not been previously reported. 23938256

2012

dbSNP: rs63750756
rs63750756
0.100 GeneticVariation BEFREE A mutation in exon 10 of the tau gene, N279K, causes a particular kindred of FTDP-17, which is predominant for parkinsonism. 22169201

2012

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE Using Cox proportional hazard models to evaluate the risk of parkinsonism among family members of PD subjects, having a daughter with PD compared with a son was associated with increased risk of parkinsonism in the parent (HR 2.59, p=0.014) as was having a child with a LRRK2 G2019S mutation (HR 3.19, p=0.003). 21511009

2011

dbSNP: rs63750756
rs63750756
0.100 GeneticVariation BEFREE Pallido-ponto-nigral degeneration (PPND), caused by an N279K mutation of the MAPT gene, is 1 of a family of disorders collectively referred to as frontotemporal dementia and parkinsonism linked to chromosome 17. 21681797

2011

dbSNP: rs34637584
rs34637584
0.100 GeneticVariation BEFREE In addition, evaluation of LRRK1 variants in our large Lrrk2 p.G2019S-parkinsonism series from a Tunisian (n=145) identified a missense mutation (p.L416M) resulting in an average 6.2 years younger age at disease onset. 20144646

2010