Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs374016704
rs374016704
GDF1 ; UPF1 ; CERS1
G 0.700 GeneticVariation CLINVAR Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. 28991257

2017
dbSNP: rs374016704
rs374016704
GDF1 ; UPF1 ; CERS1
G 0.700 GeneticVariation CLINVAR Clinical application of whole-exome sequencing across clinical indications. 26633542

2016
dbSNP: rs137955225
rs137955225
MMP21
T 0.700 GeneticVariation CLINVAR MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates. 26437028

2015
dbSNP: rs145119918
rs145119918
MMP21
A 0.700 GeneticVariation CLINVAR MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates. 26437028

2015
dbSNP: rs121434422
rs121434422
GDF1 ; CERS1
T 0.700 CausalMutation CLINVAR Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1). 20413652

2010
dbSNP: rs121909283
rs121909283
NODAL
T 0.700 GeneticVariation CLINVAR

dbSNP: rs555563029
rs555563029
NODAL
T 0.700 GeneticVariation CLINVAR

dbSNP: rs768027510
rs768027510
GDF1 ; UPF1 ; CERS1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1805128
rs1805128
KCNE1
0.010 GeneticVariation BEFREE Drug-induced QT-interval prolongation and recurrent torsade de pointes in a child with heterotaxy syndrome and KCNE1 D85N polymorphism. 22999324

2013