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

dbSNP: rs606231196
rs606231196
SLC35A2 ; PQBP1
GC 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
dbSNP: rs1557041672
rs1557041672
SLC35A2 ; PQBP1
T 0.700 CausalMutation CLINVAR The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males. 20950397

2011
dbSNP: rs606231193
rs606231193
PQBP1
C 0.700 CausalMutation CLINVAR A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation. 17033686

2007
dbSNP: rs606231193
rs606231193
PQBP1
C 0.700 CausalMutation CLINVAR Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly. 15024694

2004
dbSNP: rs606231196
rs606231196
SLC35A2 ; PQBP1
GC 0.700 CausalMutation CLINVAR Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly. 15024694

2004
dbSNP: rs606231193
rs606231193
PQBP1
C 0.700 CausalMutation CLINVAR Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. 14634649

2003
dbSNP: rs606231196
rs606231196
SLC35A2 ; PQBP1
GC 0.700 CausalMutation CLINVAR Renpenning syndrome maps to Xp11. 9545405

1998
dbSNP: rs606231193
rs606231193
PQBP1
C 0.700 CausalMutation CLINVAR Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: a new X-linked multiple congenital anomalies/mental retardation syndrome: clinical description and molecular studies. 7943045

1994
dbSNP: rs606231193
rs606231193
PQBP1
CAG 0.700 CausalMutation CLINVAR

dbSNP: rs606231197
rs606231197
PQBP1
G 0.700 CausalMutation CLINVAR