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: rs1131692034
rs1131692034
EDA
A 0.700 CausalMutation CLINVAR

dbSNP: rs139751598
rs139751598
PYCR1
T 0.700 CausalMutation CLINVAR

dbSNP: rs751569508
rs751569508
NCOR1
A 0.700 GeneticVariation CLINVAR