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: rs1553621496
rs1553621496
UNC80
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1564421528
rs1564421528
WAC
T 0.700 CausalMutation CLINVAR

dbSNP: rs886039469
rs886039469
KCNMA1 ; KCNMA1-AS1
C 0.700 CausalMutation CLINVAR