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 |
|
|
|
rs61729366
|
|
A |
0.700 |
SusceptibilityMutation |
CLINVAR |
|
|
|
rs756636036
|
|
G |
0.700 |
SusceptibilityMutation |
CLINVAR |
|
|
|
rs775394591
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs776720232
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs780263938
|
|
C |
0.700 |
SusceptibilityMutation |
CLINVAR |
|
|
|
rs864309713
|
|
GT |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs886040971
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs921444831
|
|
T |
0.700 |
SusceptibilityMutation |
CLINVAR |
|
|
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |