Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs34637584
rs34637584
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.900 GeneticVariation BEFREE 1.Available evidence confirms that the LRRK2 variant rs34637584 is associated with less cognitive impairment in people with PD.2.GBA variants rs76763715 and rs421016 are associated with more severe cognitive impairment in people with PD.3.The GBA variants rs76763715, rs421016, rs387906315 and rs80356773 have been significantly associated with the onset of depressive symptoms in PD. 31292011

2020

dbSNP: rs34637584
rs34637584
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.900 GeneticVariation BEFREE Mutations in the gene encoding leucine-rich repeat kinase 2 (<i>LRRK2</i>), such as the G2019S mutation, are the most common cause of familial Parkinson's disease (PD). 31373835

2020

dbSNP: rs34637584
rs34637584
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.900 GeneticVariation BEFREE The G2019S substitution in the kinase domain of LRRK2 (LRRK2<sup>G2019S</sup>) is the most prevalent mutation associated with Parkinson's disease (PD). 31605779

2020

dbSNP: rs34637584
rs34637584
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.900 GeneticVariation BEFREE We developed a new model of PD that combines a sub-toxic MPTP insult to the G2019S-LRRK2 mutation. 31813996

2020

dbSNP: rs34637584
rs34637584
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.900 GeneticVariation BEFREE We applied an event-related fMRI gambling task to a group of non-manifesting carriers (NMC) of the G2019S mutation in the LRRK2 gene, in order to assess the reward network in an "at risk" population for future development of PD. 29971685

2019

dbSNP: rs34637584
rs34637584
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.900 GeneticVariation BEFREE Fibroblasts from PD patients (with or without the G2019S LRRK2 mutation) and control subjects were used to assess the different phenotypes between idiopathic and genetic PD. 30032424

2019

dbSNP: rs34637584
rs34637584
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.900 GeneticVariation BEFREE In Asian populations, the Gly2019Ser mutation is rare or absent but two other LRRK2 variants, Gly2385Arg and Arg1628PPro, increase PD risk. 30133089

2019

dbSNP: rs34637584
rs34637584
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.900 GeneticVariation BEFREE In examining the effects of PD-associated mutations and risk factors on protein function, we found that conserved substitutions such as G2019S affect human and mouse LRRK2 proteins similarly, but variation around position 2385, which is not fully conserved between humans and mice, induces divergent in vitro behavior. 30291536

2019

dbSNP: rs34637584
rs34637584
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.900 GeneticVariation BEFREE The clinical characteristics of Parkinson's disease (PD) associated with both the LRRK2 p.G2019S mutation and a GBA variant (LRRK2-GBA-PD) have not yet been determined. 30573413

2019

dbSNP: rs34637584
rs34637584
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.900 GeneticVariation BEFREE Neurite Collapse and Altered ER Ca<sup>2+</sup> Control in Human Parkinson Disease Patient iPSC-Derived Neurons with LRRK2 G2019S Mutation. 30595548

2019

dbSNP: rs34637584
rs34637584
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.900 GeneticVariation BEFREE Reduced integrity of non-motor networks was detected among NMC of the G2019S mutation in the LRRK2 gene prior to identifiable changes in connectivity of the motor network, indicating significant non-motor cerebral changes among populations "at risk" for future development of PD. 30793410

2019

dbSNP: rs34637584
rs34637584
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.900 GeneticVariation BEFREE In this study, we generate isogenic 3D midbrain organoids with or without a Parkinson's disease-associated LRRK2 G2019S mutation to study the pathogenic mechanisms associated with LRRK2 mutation. 30799274

2019

dbSNP: rs34637584
rs34637584
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.900 GeneticVariation BEFREE This study predicts the molecular pathogenicity mechanism of the G2019S on patients with PD and provides a potential platform for developing therapeutics for patients with PD that harbor this amino acid substitution. 30844370

2019

dbSNP: rs34637584
rs34637584
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.900 GeneticVariation BEFREE Conversely, α-syn aggregation increased in primary neurons from mice expressing the PD-linked LRRK2 G2019S mutation. 30927072

2019

dbSNP: rs34637584
rs34637584
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.900 GeneticVariation BEFREE G2019S variant is rare in Asian populations, whereas two other Asian-specific LRRK2 variants, G2385R and R1628P, are more frequent with a twofold increased risk of PD. 31041581

2019

dbSNP: rs34637584
rs34637584
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.900 GeneticVariation BEFREE Here, we defined the mechanism by which LRRK2-G2019S (LRRK2-GS), a pathogenic mutation in the PD-associated gene LRRK2, accelerates ER stress and cell death. 31046837

2019

dbSNP: rs34637584
rs34637584
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.900 GeneticVariation BEFREE To characterize its effect on astrocytes, we developed a protocol to produce midbrain-patterned astrocytes from human induced pluripotent stem cells (iPSCs) derived from PD LRRK2 G2019S patients and healthy controls. 31085228

2019

dbSNP: rs34637584
rs34637584
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.900 GeneticVariation BEFREE Among the several LRRK2 pathogenic mutations, the most prevalent G2019S mutation increases its kinase activity when compared with the wild-type (WT), suggesting that LRRK2 kinase substrates are potential culprits of PD pathogenesis. 31138985

2019

dbSNP: rs34637584
rs34637584
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.900 GeneticVariation BEFREE Data was collected from 1525 Ashkenazi Jews diagnosed with PD from the Tel-Aviv Medical center; 161 G2019S-LRRK2-PD, 222 GBA-PD, and 1142 iPD (no G2019S-LRRK2 or any of the 7 AJ GBA mutations tested). 31164863

2019

dbSNP: rs34637584
rs34637584
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.900 GeneticVariation BEFREE CSF samples of 51 subjects were analyzed: 15 LRRK2 p.G2019S PD, 10 IPD, 16 LRRK2 p.G2019S nonmanifesting carriers (NMC) and 10 healthy controls. 31211166

2019

dbSNP: rs34637584
rs34637584
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.900 GeneticVariation BEFREE These findings demonstrate an important role for LRRK2 protein in regulation of mitochondrial clearance by the lysosomes, which is hampered in PD with the G2019S mutation. 31261377

2019

dbSNP: rs34637584
rs34637584
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.900 GeneticVariation BEFREE In this study, we derived induced pluripotent stem cells (iPSCs) from an Ashkenazi Jewish patient with G2019S LRRK2 mutation to isolate self-renewable multipotent neural stem cells (NSCs) and to model this form of PD in vitro. 31330122

2019

dbSNP: rs34637584
rs34637584
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.900 GeneticVariation BEFREE Increased cancer risk has been reported in Parkinson's disease (PD) patients carrying the leucine rich repeat kinase 2 (LRRK2) G2019S mutation (LRRK2-PD) in comparison with idiopathic PD (IPD). 31348549

2019

dbSNP: rs34637584
rs34637584
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.900 GeneticVariation BEFREE The G2019S LRRK2 mutation, the commonest mutation in PD worldwide, was found in 5.7% of patients with idiopathic PD and 17.6% of familial cases in 153 Uzbek patients. 31485304

2019

dbSNP: rs34637584
rs34637584
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
0.900 GeneticVariation BEFREE Frequency of the LRRK2 G2019S mutation in South African patients with Parkinson's disease. 31493133

2019