Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: 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: 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: 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: 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: 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: rs797044951
rs797044951
GNAO1
A 0.700 CausalMutation CLINVAR Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature. 28503590

2019
dbSNP: rs886039494
rs886039494
GNAO1
T 0.700 CausalMutation CLINVAR Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature. 28503590

2019
dbSNP: rs104894635
rs104894635
SGSH
T 0.700 CausalMutation CLINVAR How close are we to therapies for Sanfilippo disease? 28921412

2018
dbSNP: rs104894639
rs104894639
SGSH
T 0.700 CausalMutation CLINVAR How close are we to therapies for Sanfilippo disease? 28921412

2018
dbSNP: rs1242562412
rs1242562412
ERBB2 ; PGAP3
A 0.700 CausalMutation CLINVAR PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation. 28390064

2018
dbSNP: rs1437184398
rs1437184398
GPT2
T 0.700 CausalMutation CLINVAR Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia. 29226631

2018
dbSNP: rs1553637932
rs1553637932
KIF1A
T 0.700 CausalMutation CLINVAR Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families. 28708278

2018
dbSNP: rs1553638309
rs1553638309
KIF1A
T 0.700 GeneticVariation CLINVAR Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families. 28708278

2018
dbSNP: rs1553749681
rs1553749681
DOCK3
T 0.700 GeneticVariation CLINVAR DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia. 29130632

2018
dbSNP: rs1554100923
rs1554100923
GABRG2
C 0.700 GeneticVariation CLINVAR Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype. 28460589

2018
dbSNP: rs1554129039
rs1554129039
PURA
C 0.700 CausalMutation CLINVAR Expanding the neurodevelopmental phenotype of PURA syndrome. 29150892

2018
dbSNP: rs1554129039
rs1554129039
PURA
C 0.700 CausalMutation CLINVAR PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. 29097605

2018
dbSNP: rs1554129113
rs1554129113
PURA
C 0.700 CausalMutation CLINVAR Expanding the neurodevelopmental phenotype of PURA syndrome. 29150892

2018
dbSNP: rs1554129113
rs1554129113
PURA
C 0.700 CausalMutation CLINVAR PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature. 29097605

2018
dbSNP: rs1554314738
rs1554314738
CCN6
AC 0.700 CausalMutation CLINVAR WISP3 mutation associated with pseudorheumatoid dysplasia. 29092958

2018