Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554333853
rs1554333853
CDK13
0.800 GeneticVariation UNIPROT Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008

2017
dbSNP: rs1554333853
rs1554333853
CDK13
G 0.800 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008

2017
dbSNP: rs878853160
rs878853160
CDK13
0.800 GeneticVariation UNIPROT Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008

2017
dbSNP: rs1554333853
rs1554333853
CDK13
0.800 GeneticVariation UNIPROT Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. 27479907

2016
dbSNP: rs878853160
rs878853160
CDK13
0.800 GeneticVariation UNIPROT Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing. 27479907

2016
dbSNP: rs878853160
rs878853160
CDK13
G 0.800 CausalMutation CLINVAR

dbSNP: rs1057519632
rs1057519632
CDK13
A 0.700 CausalMutation CLINVAR

dbSNP: rs1057519633
rs1057519633
CDK13
C 0.700 CausalMutation CLINVAR

dbSNP: rs1057519634
rs1057519634
CDK13
A 0.700 CausalMutation CLINVAR

dbSNP: rs1064795731
rs1064795731
CDK13
0.700 GeneticVariation UNIPROT

dbSNP: rs1554317002
rs1554317002
CDK13 ; LOC112267983
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1562722163
rs1562722163
CDK13
A 0.700 GeneticVariation CLINVAR