Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917899
rs121917899
PQBP1
0.810 GeneticVariation UNIPROT PQBP1 Is a Proximal Sensor of the cGAS-Dependent Innate Response to HIV-1. 26046437

2015
dbSNP: rs121917899
rs121917899
PQBP1
0.810 GeneticVariation UNIPROT PQBP1, a factor linked to intellectual disability, affects alternative splicing associated with neurite outgrowth. 23512658

2013
dbSNP: rs121917899
rs121917899
PQBP1
0.810 GeneticVariation UNIPROT A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation. 21315190

2011
dbSNP: rs121917899
rs121917899
PQBP1
0.810 GeneticVariation BEFREE Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing. 20410308

2010
dbSNP: rs121917899
rs121917899
PQBP1
0.810 GeneticVariation UNIPROT Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing. 20410308

2010
dbSNP: rs121917899
rs121917899
PQBP1
0.810 GeneticVariation UNIPROT Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene. 16740914

2006
dbSNP: rs121917899
rs121917899
PQBP1
0.810 GeneticVariation UNIPROT Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. 14634649

2003
dbSNP: rs121917899
rs121917899
PQBP1
G 0.810 CausalMutation CLINVAR