rs199650082
|
|
|
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 |
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 |
rs1276834647
|
|
|
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 |
rs180765750
|
|
|
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 |
rs146423225
|
|
|
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 |
rs143383
|
|
|
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 |
rs121908604
|
|
|
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 |
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 |
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 |
rs1028344225
|
|
|
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 |
rs397518483
|
|
|
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 |
rs397518483
|
|
|
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 |
rs121908603
|
|
|
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 |
rs121908603
|
|
|
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 |
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 |
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 |
rs1555628863
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Whole exome sequencing identifies de novo mutations in GATA6 associated with congenital diaphragmatic hernia.
|
24385578 |
2014 |
rs1057518944
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs113871094
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs141498002
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs143044921
|
|
A |
0.700 |
SusceptibilityMutation |
CLINVAR |
|
|
|
rs1555261576
|
|
T |
0.700 |
SusceptibilityMutation |
CLINVAR |
|
|
|
rs1565286228
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1565977796
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs372359356
|
|
A |
0.700 |
SusceptibilityMutation |
CLINVAR |
|
|
|