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: rs1057524820
rs1057524820
SCN8A
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1554700718
rs1554700718
HNRNPK
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1554888939
rs1554888939
EHMT1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555528356
rs1555528356
ANKRD11
A 0.700 GeneticVariation CLINVAR

dbSNP: rs199469465
rs199469465
SRCAP
T 0.700 CausalMutation CLINVAR

dbSNP: rs758946412
rs758946412
PCDH19
CG 0.700 CausalMutation CLINVAR

dbSNP: rs796052505
rs796052505
GABRG2
A 0.700 CausalMutation CLINVAR