Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518944
rs1057518944
NIPBL
G 0.700 GeneticVariation CLINVAR

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: rs1565286228
rs1565286228
MYRF
T 0.700 CausalMutation CLINVAR

dbSNP: rs1565977796
rs1565977796
CDK8
A 0.700 CausalMutation CLINVAR

dbSNP: rs372359356
rs372359356
FRAS1
A 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs61729366
rs61729366
FRAS1
A 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs756636036
rs756636036
ROBO4 ; LOC107984406
G 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs775394591
rs775394591
FREM2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs776720232
rs776720232
PGAP3
C 0.700 CausalMutation CLINVAR

dbSNP: rs780263938
rs780263938
GLI3
C 0.700 SusceptibilityMutation CLINVAR

dbSNP: rs864309713
rs864309713
FBN1
GT 0.700 GeneticVariation CLINVAR

dbSNP: rs886040971
rs886040971
TRPS1
A 0.700 CausalMutation CLINVAR

dbSNP: rs921444831
rs921444831
FRAS1
T 0.700 SusceptibilityMutation CLINVAR

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: 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: 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: 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: 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: 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: 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