Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060499548
rs1060499548
ABL1
A 0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113

2017
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: rs864309487
rs864309487
GMNN
A 0.700 CausalMutation CLINVAR De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. 26637980

2015
dbSNP: rs1555630216
rs1555630216
PIEZO2
T 0.700 CausalMutation CLINVAR

dbSNP: rs1555648288
rs1555648288
PIEZO2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1557781252
rs1557781252
GATAD2B
A 0.700 CausalMutation CLINVAR

dbSNP: rs1569509136
rs1569509136
HUWE1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs181109321
rs181109321
TTPA
T 0.700 GeneticVariation CLINVAR

dbSNP: rs199469464
rs199469464
SRCAP
T 0.700 CausalMutation CLINVAR