Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906818
rs387906818
0.710 GeneticVariation BEFREE In the first family, we identified a de novo missense mutation (c.1366C>T, p.R456C) in a sporadic CDH patient with tetralogy of Fallot. 24385578

2014

dbSNP: rs387906818
rs387906818
T 0.710 CausalMutation CLINVAR In the first family, we identified a de novo missense mutation (c.1366C>T, p.R456C) in a sporadic CDH patient with tetralogy of Fallot. 24385578

2014

dbSNP: rs587777710
rs587777710
T 0.710 CausalMutation CLINVAR In the second, a nonsense mutation (c.712G>T, p.G238*) was identified in two siblings with CDH and a large ventricular septal defect. 24385578

2014

dbSNP: rs587777710
rs587777710
0.710 GeneticVariation BEFREE In the second, a nonsense mutation (c.712G>T, p.G238*) was identified in two siblings with CDH and a large ventricular septal defect. 24385578

2014

dbSNP: rs1563686762
rs1563686762
C 0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677

2019

dbSNP: rs1060499548
rs1060499548
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: rs1555628863
rs1555628863
C 0.700 CausalMutation CLINVAR Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia. 24385578

2014

dbSNP: rs1057518944
rs1057518944
G 0.700 GeneticVariation CLINVAR

dbSNP: rs113871094
rs113871094
A 0.700 CausalMutation CLINVAR

dbSNP: rs141498002
rs141498002
A 0.700 GeneticVariation CLINVAR

dbSNP: rs143044921
rs143044921
A 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs1555261576
rs1555261576
T 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs1565286228
rs1565286228
T 0.700 CausalMutation CLINVAR

dbSNP: rs1565977796
rs1565977796
A 0.700 CausalMutation CLINVAR

dbSNP: rs372359356
rs372359356
A 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs61729366
rs61729366
A 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs756636036
rs756636036
G 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs775394591
rs775394591
C 0.700 GeneticVariation CLINVAR

dbSNP: rs776720232
rs776720232
C 0.700 CausalMutation CLINVAR

dbSNP: rs780263938
rs780263938
C 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs864309713
rs864309713
GT 0.700 GeneticVariation CLINVAR

dbSNP: rs886040971
rs886040971
A 0.700 CausalMutation CLINVAR

dbSNP: rs921444831
rs921444831
T 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs1028344225
rs1028344225
0.020 GeneticVariation BEFREE We previously discovered that the de novo mutations c.1159C>T (p.Arg387Cys) and c.1159C>A (p.Arg387Ser) in the RA Receptor Beta (RARB) gene cause microphthalmia and diaphragmatic hernia. 27120018

2016

dbSNP: rs397518483
rs397518483
0.020 GeneticVariation BEFREE We previously discovered that the de novo mutations c.1159C>T (p.Arg387Cys) and c.1159C>A (p.Arg387Ser) in the RA Receptor Beta (RARB) gene cause microphthalmia and diaphragmatic hernia. 27120018

2016