Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs34637584
rs34637584
LRRK2
0.720 GeneticVariation BEFREE Application of the Movement Disorder Society prodromal criteria in healthy G2019S-LRRK2 carriers. 29603409

2018
dbSNP: rs34637584
rs34637584
LRRK2
0.720 GeneticVariation BEFREE The objective of this study was to assess performance characteristics of G2019S as a clinical test for PD in the setting of typical movement disorder clinics in the United States. 17020475

2006
dbSNP: rs104893877
rs104893877
SNCA
0.030 GeneticVariation BEFREE Mice carrying an Ala53Thr human SNCA transgene driven by the mouse prion promoter show a mild movement disorder and only rarely develop severe pathology by 2 years of age. 15585343

2005
dbSNP: rs104893877
rs104893877
SNCA
0.030 GeneticVariation BEFREE Neuronal alpha-synucleinopathy with severe movement disorder in mice expressing A53T human alpha-synuclein. 12062037

2002
dbSNP: rs104893877
rs104893877
SNCA
0.030 GeneticVariation BEFREE Mice overexpressing the human A53T mutant alpha-Syn develop a severe movement disorder, paralysis, and synucleinopathy, but the mechanisms are not understood. 16399671

2006
dbSNP: rs587777057
rs587777057
GNAO1
0.020 GeneticVariation BEFREE Here we develop a mouse model carrying a human GNAO1 mutation (G203R) and determine whether the clinical features of patients with this GNAO1 mutation, which includes both epilepsy and movement disorder, would be evident in the mouse model. 30682176

2019
dbSNP: rs587777057
rs587777057
GNAO1
0.020 GeneticVariation BEFREE GNAO1-associated epileptic encephalopathy and movement disorders: c.607G>A variant represents a probable mutation hotspot with a distinct phenotype. 28202424

2017
dbSNP: rs104893878
rs104893878
SNCA ; SNCA-AS1
0.010 GeneticVariation BEFREE In <i>Drosophila melanogaster</i> disease model, human α-synuclein A30P overexpressing flies (A30P PD model) have been shown for levy body aggregation and movement disorders. 28824465

2017
dbSNP: rs1060501198
rs1060501198
TP53
0.010 GeneticVariation BEFREE Mice overexpressing the human A53T mutant alpha-Syn develop a severe movement disorder, paralysis, and synucleinopathy, but the mechanisms are not understood. 16399671

2006
dbSNP: rs11558538
rs11558538
HNMT ; LOC107985948
0.010 GeneticVariation BEFREE These results, combined with previous findings indicating alterations in the frequency for the HNMT Thr105Ile polymorphism in patients with PD, suggest that alterations of histamine homeostasis in the SNC are associated with the risk of movement disorders. 18543121

2008
dbSNP: rs34778348
rs34778348
LRRK2 ; LOC105369736
0.010 GeneticVariation BEFREE In this study, we performed genotyping for the LRRK2 G2385R variant in PD patients recruited from the Movement Disorder Clinic of Xuanwu Hospital in Beijing and in healthy controls randomly selected from the Beijing Longitudinal Study on Aging cohort. 27699718

2016
dbSNP: rs876658902
rs876658902
TP53
0.010 GeneticVariation BEFREE Mice overexpressing the human A53T mutant alpha-Syn develop a severe movement disorder, paralysis, and synucleinopathy, but the mechanisms are not understood. 16399671

2006
dbSNP: rs34637584
rs34637584
LRRK2
A 0.720 CausalMutation CLINVAR Pathogenic LRRK2 variants are gain-of-function mutations that enhance LRRK2-mediated repression of β-catenin signaling. 28103901

2017
dbSNP: rs34637584
rs34637584
LRRK2
A 0.720 CausalMutation CLINVAR Parkinson disease phenotype in Ashkenazi Jews with and without LRRK2 G2019S mutations. 24243757

2013
dbSNP: rs34637584
rs34637584
LRRK2
A 0.720 CausalMutation CLINVAR Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. 15541309

2004
dbSNP: rs34637584
rs34637584
LRRK2
A 0.720 CausalMutation CLINVAR Parkinson's disease-associated mutations in LRRK2 link enhanced GTP-binding and kinase activities to neuronal toxicity. 17200152

2007
dbSNP: rs34637584
rs34637584
LRRK2
A 0.720 CausalMutation CLINVAR Comprehensive analysis of LRRK2 in publicly available Parkinson's disease cases and neurologically normal controls. 18213618

2008
dbSNP: rs34637584
rs34637584
LRRK2
A 0.720 CausalMutation CLINVAR LRRK2 gene in Parkinson disease: mutation analysis and case control association study. 16157901

2005
dbSNP: rs34637584
rs34637584
LRRK2
A 0.720 CausalMutation CLINVAR Disease penetrance of late-onset parkinsonism: a meta-analysis. 25330418

2014
dbSNP: rs34637584
rs34637584
LRRK2
A 0.720 CausalMutation CLINVAR Clinical traits of LRRK2-associated Parkinson's disease in Ireland: a link between familial and idiopathic PD. 16102999

2005
dbSNP: rs104894094
rs104894094
CDKN2A
A 0.700 CausalMutation CLINVAR Prevalence of CDKN2A mutations in pancreatic cancer patients: implications for genetic counseling. 21150883

2011
dbSNP: rs104894094
rs104894094
CDKN2A
A 0.700 CausalMutation CLINVAR Risk of developing pancreatic cancer in families with familial atypical multiple mole melanoma associated with a specific 19 deletion of p16 (p16-Leiden). 10956390

2000
dbSNP: rs104894094
rs104894094
CDKN2A
A 0.700 CausalMutation CLINVAR Comprehensive analysis of CDKN2A (p16INK4A/p14ARF) and CDKN2B genes in 53 melanoma index cases considered to be at heightened risk of melanoma. 15937071

2006
dbSNP: rs104894094
rs104894094
CDKN2A
A 0.700 CausalMutation CLINVAR Novel and recurrent p14 mutations in Italian familial melanoma. 20132244

2010
dbSNP: rs104894094
rs104894094
CDKN2A
A 0.700 CausalMutation CLINVAR Lifetime risk of melanoma in CDKN2A mutation carriers in a population-based sample. 16234564

2005