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
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 Disease penetrance of late-onset parkinsonism: a meta-analysis. 25330418

2014
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 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 Parkinson's disease-associated mutations in LRRK2 link enhanced GTP-binding and kinase activities to neuronal toxicity. 17200152

2007
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: 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 Clinical traits of LRRK2-associated Parkinson's disease in Ireland: a link between familial and idiopathic PD. 16102999

2005
dbSNP: rs34637584
rs34637584
LRRK2
A 0.720 CausalMutation CLINVAR Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. 15541309

2004
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