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: rs1057519389
rs1057519389
EBF3
T 0.700 GeneticVariation CLINVAR Arx acts as a regional key selector gene in the ventral telencephalon mainly through its transcriptional repression activity. 19627984

2009
dbSNP: rs1057519389
rs1057519389
EBF3
T 0.700 GeneticVariation CLINVAR De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism. 29162653

2017
dbSNP: rs1057519389
rs1057519389
EBF3
T 0.700 GeneticVariation CLINVAR Mutations in ARX Result in Several Defects Involving GABAergic Neurons. 20300201

2010
dbSNP: rs1057519389
rs1057519389
EBF3
T 0.700 GeneticVariation CLINVAR De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome. 28017370

2017
dbSNP: rs1057519389
rs1057519389
EBF3
T 0.700 GeneticVariation CLINVAR Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases. 28487885

2017
dbSNP: rs1057519389
rs1057519389
EBF3
T 0.700 GeneticVariation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017
dbSNP: rs1057519389
rs1057519389
EBF3
T 0.700 GeneticVariation CLINVAR Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mechanism of Neurodevelopmental Disease. 29062322

2017
dbSNP: rs1057519389
rs1057519389
EBF3
T 0.700 GeneticVariation CLINVAR Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism. 28017373

2017
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR Identification of SATB2 as the cleft palate gene on 2q32-q33. 12915443

2003
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR DEPDC5 mutations in familial and sporadic focal epilepsy. 28170089

2017
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons. 27668656

2016
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene. 23925499

2013
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR Disruption of SATB2 or its long-range cis-regulation by SOX9 causes a syndromic form of Pierre Robin sequence. 24363063

2014
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR Genotype and phenotype in 12 additional individuals with SATB2-associated syndrome. 28139846

2017
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR Small deletions of SATB2 cause some of the clinical features of the 2q33.1 microdeletion syndrome. 19668335

2009
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR 4.5 Mb microdeletion in chromosome band 2q33.1 associated with learning disability and cleft palate. 19576302

2010
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR The clinical significance of small copy number variants in neurodevelopmental disorders. 25106414

2014
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. 23849776

2013
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR Interstitial deletion of the long arm of chromosome 2 with normal levels of isocitrate dehydrogenase. 2918541

1989
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing. 25885067

2015
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw development. 16960803

2006
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR A locus for isolated cleft palate, located on human chromosome 2q32. 10417281

1999
dbSNP: rs1057521083
rs1057521083
SATB2
A 0.700 GeneticVariation CLINVAR SATB2 is a multifunctional determinant of craniofacial patterning and osteoblast differentiation. 16751105

2006