Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918408
rs121918408
GLRA1 ; LOC112267935
T 0.800 CausalMutation CLINVAR Familiar Hyperekplexia, a Potential Cause of Cautious Gait: A New Korean Case and a Systematic Review of Phenotypes. 28122427

2017
dbSNP: rs121918408
rs121918408
GLRA1 ; LOC112267935
T 0.800 CausalMutation CLINVAR Clinical Reasoning: A 35-year-old woman with hyperstartling, stiffness, and accidental falls: A startling diagnosis. 28138086

2017
dbSNP: rs121918408
rs121918408
GLRA1 ; LOC112267935
0.800 GeneticVariation UNIPROT Allosteric and hyperekplexic mutant phenotypes investigated on an α1 glycine receptor transmembrane structure. 25730860

2015
dbSNP: rs121918409
rs121918409
GLRA1 ; LOC112267935
0.800 GeneticVariation UNIPROT Allosteric and hyperekplexic mutant phenotypes investigated on an α1 glycine receptor transmembrane structure. 25730860

2015
dbSNP: rs121918410
rs121918410
GLRA1
0.800 GeneticVariation UNIPROT Allosteric and hyperekplexic mutant phenotypes investigated on an α1 glycine receptor transmembrane structure. 25730860

2015
dbSNP: rs121918411
rs121918411
GLRA1 ; LOC112267935
0.800 GeneticVariation UNIPROT Allosteric and hyperekplexic mutant phenotypes investigated on an α1 glycine receptor transmembrane structure. 25730860

2015
dbSNP: rs121918412
rs121918412
GLRA1 ; LOC112267935
0.800 GeneticVariation UNIPROT Allosteric and hyperekplexic mutant phenotypes investigated on an α1 glycine receptor transmembrane structure. 25730860

2015
dbSNP: rs121918413
rs121918413
GLRA1 ; LOC112267935
0.800 GeneticVariation UNIPROT Allosteric and hyperekplexic mutant phenotypes investigated on an α1 glycine receptor transmembrane structure. 25730860

2015
dbSNP: rs199547699
rs199547699
GLRA1 ; LOC112267935
0.800 GeneticVariation UNIPROT Allosteric and hyperekplexic mutant phenotypes investigated on an α1 glycine receptor transmembrane structure. 25730860

2015
dbSNP: rs281864919
rs281864919
GLRA1
0.800 GeneticVariation UNIPROT Allosteric and hyperekplexic mutant phenotypes investigated on an α1 glycine receptor transmembrane structure. 25730860

2015
dbSNP: rs281864919
rs281864919
GLRA1
T 0.800 CausalMutation CLINVAR Neonatal hyperekplexia with homozygous p.R392H mutation in GLRA1. 25036534

2014
dbSNP: rs121918408
rs121918408
GLRA1 ; LOC112267935
0.800 GeneticVariation UNIPROT New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms. 24108130

2013
dbSNP: rs121918409
rs121918409
GLRA1 ; LOC112267935
0.800 GeneticVariation UNIPROT New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms. 24108130

2013
dbSNP: rs121918410
rs121918410
GLRA1
0.800 GeneticVariation UNIPROT New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms. 24108130

2013
dbSNP: rs121918411
rs121918411
GLRA1 ; LOC112267935
0.800 GeneticVariation UNIPROT New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms. 24108130

2013
dbSNP: rs121918412
rs121918412
GLRA1 ; LOC112267935
0.800 GeneticVariation UNIPROT New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms. 24108130

2013
dbSNP: rs121918413
rs121918413
GLRA1 ; LOC112267935
0.800 GeneticVariation UNIPROT New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms. 24108130

2013
dbSNP: rs199547699
rs199547699
GLRA1 ; LOC112267935
0.800 GeneticVariation UNIPROT New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms. 24108130

2013
dbSNP: rs199547699
rs199547699
GLRA1 ; LOC112267935
A 0.800 GeneticVariation CLINVAR New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms. 24108130

2013
dbSNP: rs281864919
rs281864919
GLRA1
0.800 GeneticVariation UNIPROT New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms. 24108130

2013
dbSNP: rs199547699
rs199547699
GLRA1 ; LOC112267935
A 0.800 GeneticVariation CLINVAR Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia. 20631190

2010
dbSNP: rs281864919
rs281864919
GLRA1
T 0.800 CausalMutation CLINVAR Pathophysiological mechanisms of dominant and recessive GLRA1 mutations in hyperekplexia. 20631190

2010
dbSNP: rs281864919
rs281864919
GLRA1
T 0.800 CausalMutation CLINVAR Recessive hyperekplexia mutations of the glycine receptor alpha1 subunit affect cell surface integration and stability. 19732286

2009
dbSNP: rs121918410
rs121918410
GLRA1
C 0.800 CausalMutation CLINVAR Novel missense mutation (Y279S) in the GLRA1 gene causing hyperekplexia. 16236274

2006
dbSNP: rs281864919
rs281864919
GLRA1
T 0.800 CausalMutation CLINVAR Functional characterization of compound heterozygosity for GlyRalpha1 mutations in the startle disease hyperekplexia. 12169101

2002