Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs921444831
rs921444831
FRAS1
T 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs886040971
rs886040971
TRPS1
A 0.700 CausalMutation CLINVAR

dbSNP: rs864309713
rs864309713
FBN1
GT 0.700 GeneticVariation CLINVAR

dbSNP: rs780263938
rs780263938
GLI3
C 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs776720232
rs776720232
PGAP3
C 0.700 CausalMutation CLINVAR

dbSNP: rs775394591
rs775394591
FREM2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs756636036
rs756636036
ROBO4 ; LOC107984406
G 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs61729366
rs61729366
FRAS1
A 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs587777710
rs587777710
GATA6
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
GATA6
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: rs4842407
rs4842407 		0.010 GeneticVariation BEFREE In the ARV-ATD co-treatment groups, rs4842407, a long intergenic noncoding RNAs (lincRNAs) transcript variant on chromosome 12, was associated with DIH (p = 5.3 × 10<sup>-7</sup>, OR = 5.4, 95% CI = 2.8-10.3). 28388302

2017
dbSNP: rs397518483
rs397518483
RARB
0.020 GeneticVariation BEFREE Surprisingly, three unrelated subjects with microphthalmia and diaphragmatic hernia showed de novo missense mutations affecting the same codon; two of the subjects had the c.1159C>T (Arg387Cys) mutation, whereas the other one carried the c.1159C>A (p.Arg387Ser) mutation. 24075189

2013
dbSNP: rs397518483
rs397518483
RARB
0.020 GeneticVariation BEFREE Surprisingly, three unrelated subjects with microphthalmia and diaphragmatic hernia showed de novo missense mutations affecting the same codon; two of the subjects had the c.1159C>T (Arg387Cys) mutation, whereas the other one carried the c.1159C>A (p.Arg387Ser) mutation. 24075189

2013
dbSNP: rs397518483
rs397518483
RARB
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: rs387906818
rs387906818
GATA6
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
GATA6
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: rs372359356
rs372359356
FRAS1
A 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs199650082
rs199650082
ERN1
0.010 GeneticVariation BEFREE We identified a missense SNP rs199650082 (2756G→A, R919Q, p = 1.4 × 10<sup>-6</sup>, odds ratio [OR] = 18.2, 95% confidence interval [CI] = 7.1-46.9) in an endoplasmic reticulum to the nucleus signaling-1 (ERN1) gene on chromosome 17 to be associated with DIH in the ARV-only cohort. 28388302

2017
dbSNP: rs180765750
rs180765750
GATA4
0.010 GeneticVariation BEFREE Screening 96 additional CDH patients identified a de novo heterozygous GATA4 variant (c.848G>A; p.R283H) in a non-isolated CDH patient. 23138528

2013
dbSNP: rs1565977796
rs1565977796
CDK8
A 0.700 CausalMutation CLINVAR

dbSNP: rs1565286228
rs1565286228
MYRF
T 0.700 CausalMutation CLINVAR

dbSNP: rs1563686762
rs1563686762
RAD21 ; UTP23
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: rs1555628863
rs1555628863
GATA6
C 0.700 CausalMutation CLINVAR Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia. 24385578

2014
dbSNP: rs1555261576
rs1555261576
FREM2
T 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs146423225
rs146423225
ZFPM2 ; ZFPM2-AS1
0.010 GeneticVariation BEFREE The other two mutations (p.M703L and p.Q889E) were reported in patients with congenital diaphragmatic hernia but not in patients with CHD. 21919901

2012