Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: rs1028344225
rs1028344225
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: rs1028344225
rs1028344225
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: rs121908603
rs121908603
ZFPM2 ; ZFPM2-AS1
0.020 GeneticVariation BEFREE For FOG2, we identified novel sequence alterations predicting p.M703L and p.T843A in two patients with isolated CDH that were absent in 526 and 564 control chromosomes respectively. 17568391

2007
dbSNP: rs121908603
rs121908603
ZFPM2 ; ZFPM2-AS1
0.020 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
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: rs121908604
rs121908604
ZFPM2 ; ZFPM2-AS1
0.010 GeneticVariation BEFREE For FOG2, we identified novel sequence alterations predicting p.M703L and p.T843A in two patients with isolated CDH that were absent in 526 and 564 control chromosomes respectively. 17568391

2007
dbSNP: rs1276834647
rs1276834647
STRA6
0.010 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: rs143383
rs143383
GDF5
0.010 GeneticVariation BEFREE We genotyped three tagSNPs (rs224334, rs143384, rs143383) in 239 cases and 239 controls from western Brittany (France) where CDH is frequent, and tested the association using both single-locus and haplotype-based approaches. 20633687

2010
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
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: 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: 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: 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: 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: rs1057518944
rs1057518944
NIPBL
G 0.700 GeneticVariation CLINVAR

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: rs113871094
rs113871094
FBN1
A 0.700 CausalMutation CLINVAR

dbSNP: rs141498002
rs141498002
PMM2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs143044921
rs143044921
FREM2
A 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs1555261576
rs1555261576
FREM2
T 0.700 SusceptibilityMutation CLINVAR

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