Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554333853
rs1554333853
CDK13
G 0.700 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008

2017
dbSNP: rs1057518946
rs1057518946
GJB1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs137854521
rs137854521
ANO5
CA 0.700 CausalMutation CLINVAR

dbSNP: rs1554438441
rs1554438441
CLCN1
GCT 0.700 GeneticVariation CLINVAR

dbSNP: rs1555452876
rs1555452876
PKD1 ; MIR6511B1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs368869806
rs368869806
PTCH1
T 0.700 CausalMutation CLINVAR