Gene: LRRK2 ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs34637584
rs34637584
LRRK2
A 0.810 CausalMutation CLINVAR Quantitative assessment of the effect of LRRK2 exonic variants on the risk of Parkinson's disease: a meta-analysis. 22575234

2012
dbSNP: rs34637584
rs34637584
LRRK2
A 0.810 CausalMutation CLINVAR Pathogenic LRRK2 mutations, through increased kinase activity, produce enlarged lysosomes with reduced degradative capacity and increase ATP13A2 expression. 26251043

2015
dbSNP: rs34637584
rs34637584
LRRK2
A 0.810 CausalMutation CLINVAR The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study. 18986508

2008
dbSNP: rs34637584
rs34637584
LRRK2
A 0.810 CausalMutation CLINVAR Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations. 15726496

2005
dbSNP: rs34637584
rs34637584
LRRK2
A 0.810 CausalMutation CLINVAR Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease. 15680455

2005
dbSNP: rs33939927
rs33939927
LRRK2
T 0.800 CausalMutation CLINVAR Kinase activity is required for the toxic effects of mutant LRRK2/dardarin. 16750377

2006
dbSNP: rs33939927
rs33939927
LRRK2
G 0.800 CausalMutation CLINVAR

dbSNP: rs33939927
rs33939927
LRRK2
T 0.800 CausalMutation CLINVAR Dopaminergic neuronal loss, reduced neurite complexity and autophagic abnormalities in transgenic mice expressing G2019S mutant LRRK2. 21494637

2011
dbSNP: rs33939927
rs33939927
LRRK2
T 0.800 CausalMutation CLINVAR The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from southern Italy. 21538529

2011
dbSNP: rs33939927
rs33939927
LRRK2
T 0.800 CausalMutation CLINVAR Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. 15541309

2004
dbSNP: rs33939927
rs33939927
LRRK2
T 0.800 CausalMutation CLINVAR LRRK2 directly phosphorylates Akt1 as a possible physiological substrate: impairment of the kinase activity by Parkinson's disease-associated mutations. 21658387

2011
dbSNP: rs33939927
rs33939927
LRRK2
T 0.800 CausalMutation CLINVAR Ser1292 autophosphorylation is an indicator of LRRK2 kinase activity and contributes to the cellular effects of PD mutations. 23241745

2012
dbSNP: rs33939927
rs33939927
LRRK2
T 0.800 CausalMutation CLINVAR Analysis of non-synonymous-coding variants of Parkinson's disease-related pathogenic and susceptibility genes in East Asian populations. 24565865

2014
dbSNP: rs34805604
rs34805604
LRRK2
G 0.800 CausalMutation CLINVAR

dbSNP: rs34995376
rs34995376
LRRK2
A 0.800 CausalMutation CLINVAR

dbSNP: rs35801418
rs35801418
LRRK2
G 0.800 CausalMutation CLINVAR

dbSNP: rs35870237
rs35870237
LRRK2
C 0.800 CausalMutation CLINVAR

dbSNP: rs281865052
rs281865052
LRRK2
G 0.700 CausalMutation CLINVAR

dbSNP: rs281865054
rs281865054
LRRK2
T 0.700 CausalMutation CLINVAR

dbSNP: rs74163686
rs74163686
LRRK2
C 0.700 CausalMutation CLINVAR

dbSNP: rs34637584
rs34637584
LRRK2
0.810 GeneticVariation UNIPROT EFNS/MDS-ES/ENS [corrected] recommendations for the diagnosis of Parkinson's disease. 23279440

2013
dbSNP: rs33939927
rs33939927
LRRK2
0.800 GeneticVariation UNIPROT Rab29 activation of the Parkinson's disease-associated LRRK2 kinase. 29212815

2018
dbSNP: rs33939927
rs33939927
LRRK2
0.800 GeneticVariation UNIPROT Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations. 15726496

2005
dbSNP: rs33939927
rs33939927
LRRK2
0.800 GeneticVariation UNIPROT The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson's disease and originates from a common ancestor. 16272257

2005
dbSNP: rs33939927
rs33939927
LRRK2
0.800 GeneticVariation UNIPROT Parkinson's disease and LRRK2: frequency of a common mutation in U.S. movement disorder clinics. 16250030

2006