Gene: DDX3X ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519430
rs1057519430
DDX3X
T 0.700 CausalMutation CLINVAR DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome. 28371085

2017
dbSNP: rs1255183431
rs1255183431
DDX3X
C 0.700 CausalMutation CLINVAR DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome. 28371085

2017
dbSNP: rs1555950665
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
C 0.700 CausalMutation CLINVAR DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome. 28371085

2017
dbSNP: rs1555953166
rs1555953166
DDX3X
A 0.700 CausalMutation CLINVAR DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome. 28371085

2017
dbSNP: rs1555953548
rs1555953548
DDX3X
T 0.700 GeneticVariation CLINVAR DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome. 28371085

2017
dbSNP: rs1555954414
rs1555954414
DDX3X
A 0.700 CausalMutation CLINVAR DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome. 28371085

2017
dbSNP: rs797045025
rs797045025
DDX3X
A 0.700 CausalMutation CLINVAR DDX3X mutations in two girls with a phenotype overlapping Toriello-Carey syndrome. 28371085

2017
dbSNP: rs1057519430
rs1057519430
DDX3X
T 0.700 CausalMutation CLINVAR Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. 26235985

2015
dbSNP: rs1057519430
rs1057519430
DDX3X
T 0.700 CausalMutation CLINVAR De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum. 25326669

2015
dbSNP: rs1057519430
rs1057519430
DDX3X
T 0.700 CausalMutation CLINVAR Cancer-associated mutants of RNA helicase DDX3X are defective in RNA-stimulated ATP hydrolysis. 25724843

2015
dbSNP: rs1057519430
rs1057519430
DDX3X
T 0.700 CausalMutation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015
dbSNP: rs1255183431
rs1255183431
DDX3X
C 0.700 CausalMutation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015
dbSNP: rs1255183431
rs1255183431
DDX3X
C 0.700 CausalMutation CLINVAR Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. 26235985

2015
dbSNP: rs1255183431
rs1255183431
DDX3X
C 0.700 CausalMutation CLINVAR De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum. 25326669

2015
dbSNP: rs1255183431
rs1255183431
DDX3X
C 0.700 CausalMutation CLINVAR Cancer-associated mutants of RNA helicase DDX3X are defective in RNA-stimulated ATP hydrolysis. 25724843

2015
dbSNP: rs1555950665
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
C 0.700 CausalMutation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015
dbSNP: rs1555950665
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
C 0.700 CausalMutation CLINVAR Cancer-associated mutants of RNA helicase DDX3X are defective in RNA-stimulated ATP hydrolysis. 25724843

2015
dbSNP: rs1555950665
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
C 0.700 CausalMutation CLINVAR De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum. 25326669

2015
dbSNP: rs1555950665
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
C 0.700 CausalMutation CLINVAR Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. 26235985

2015
dbSNP: rs1555953166
rs1555953166
DDX3X
A 0.700 CausalMutation CLINVAR Cancer-associated mutants of RNA helicase DDX3X are defective in RNA-stimulated ATP hydrolysis. 25724843

2015
dbSNP: rs1555953166
rs1555953166
DDX3X
A 0.700 CausalMutation CLINVAR De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum. 25326669

2015
dbSNP: rs1555953166
rs1555953166
DDX3X
A 0.700 CausalMutation CLINVAR Large-scale discovery of novel genetic causes of developmental disorders. 25533962

2015
dbSNP: rs1555953166
rs1555953166
DDX3X
A 0.700 CausalMutation CLINVAR Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. 26235985

2015
dbSNP: rs1555953548
rs1555953548
DDX3X
T 0.700 GeneticVariation CLINVAR Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. 26235985

2015
dbSNP: rs1555953548
rs1555953548
DDX3X
T 0.700 GeneticVariation CLINVAR Cancer-associated mutants of RNA helicase DDX3X are defective in RNA-stimulated ATP hydrolysis. 25724843

2015