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: rs1555743003
rs1555743003
ASXL3
A 0.700 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
dbSNP: rs369634007
rs369634007
TMEM87B
G 0.700 GeneticVariation CLINVAR Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy. 27148590

2016
dbSNP: rs1057516030
rs1057516030
DYRK1A ; LOC105372797
TA 0.700 CausalMutation CLINVAR

dbSNP: rs1232880706
rs1232880706
FBN1
A 0.700 CausalMutation CLINVAR

dbSNP: rs142239530
rs142239530
STIM1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1554196416
rs1554196416
PHIP ; IRAK1BP1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1560755661
rs1560755661
TBCK
A 0.700 CausalMutation CLINVAR