rs267607038
|
Entrez Id: |
26040 |
Gene Symbol: |
SETBP1 |
SETBP1
|
Schinzel-Giedion syndrome
|
C |
0.800 |
CausalMutation |
CLINVAR |
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
|
28346496 |
2017 |
rs267607038
|
Entrez Id: |
26040 |
Gene Symbol: |
SETBP1 |
SETBP1
|
Schinzel-Giedion syndrome
|
C |
0.800 |
CausalMutation |
CLINVAR |
West syndrome in a patient with Schinzel-Giedion syndrome.
|
25028416 |
2015 |
rs267607038
|
Entrez Id: |
26040 |
Gene Symbol: |
SETBP1 |
SETBP1
|
Schinzel-Giedion syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
|
20436468 |
2010 |
rs267607038
|
Entrez Id: |
26040 |
Gene Symbol: |
SETBP1 |
SETBP1
|
Schinzel-Giedion syndrome
|
C |
0.800 |
CausalMutation |
CLINVAR |
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
|
20436468 |
2010 |
rs267607039
|
Entrez Id: |
26040 |
Gene Symbol: |
SETBP1 |
SETBP1
|
Schinzel-Giedion syndrome
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs267607039
|
Entrez Id: |
26040 |
Gene Symbol: |
SETBP1 |
SETBP1
|
Schinzel-Giedion syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
|
20436468 |
2010 |
rs267607040
|
Entrez Id: |
26040 |
Gene Symbol: |
SETBP1 |
SETBP1
|
Schinzel-Giedion syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
|
20436468 |
2010 |
rs267607040
|
Entrez Id: |
26040 |
Gene Symbol: |
SETBP1 |
SETBP1
|
Schinzel-Giedion syndrome
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs267607041
|
Entrez Id: |
26040 |
Gene Symbol: |
SETBP1 |
SETBP1
|
Schinzel-Giedion syndrome
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs267607041
|
Entrez Id: |
26040 |
Gene Symbol: |
SETBP1 |
SETBP1
|
Schinzel-Giedion syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
|
20436468 |
2010 |
rs267607042
|
Entrez Id: |
26040 |
Gene Symbol: |
SETBP1 |
SETBP1
|
Schinzel-Giedion syndrome
|
A |
0.800 |
CausalMutation |
CLINVAR |
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
|
20436468 |
2010 |
rs267607042
|
Entrez Id: |
26040 |
Gene Symbol: |
SETBP1 |
SETBP1
|
Schinzel-Giedion syndrome
|
A |
0.800 |
CausalMutation |
CLINVAR |
Whole-Exome Sequencing in the Clinic: Lessons from Six Consecutive Cases from the Clinician's Perspective.
|
25852444 |
2015 |
rs267607042
|
Entrez Id: |
26040 |
Gene Symbol: |
SETBP1 |
SETBP1
|
Schinzel-Giedion syndrome
|
C |
0.800 |
GeneticVariation |
CLINVAR |
|
|
|
rs267607042
|
Entrez Id: |
26040 |
Gene Symbol: |
SETBP1 |
SETBP1
|
Schinzel-Giedion syndrome
|
A |
0.800 |
CausalMutation |
CLINVAR |
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
|
28346496 |
2017 |
rs267607042
|
Entrez Id: |
26040 |
Gene Symbol: |
SETBP1 |
SETBP1
|
Schinzel-Giedion syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
|
20436468 |
2010 |
rs267607042
|
Entrez Id: |
26040 |
Gene Symbol: |
SETBP1 |
SETBP1
|
Schinzel-Giedion syndrome
|
A |
0.800 |
CausalMutation |
CLINVAR |
Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features.
|
25663181 |
2015 |
rs1057519594
|
Entrez Id: |
26040 |
Gene Symbol: |
SETBP1 |
SETBP1
|
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
|
CT |
0.700 |
CausalMutation |
CLINVAR |
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
|
25217958 |
2014 |
rs10853525
|
Entrez Id: |
26040 |
Gene Symbol: |
SETBP1 |
SETBP1
|
QRS complex feature
|
|
0.700 |
GeneticVariation |
GWASCAT |
52 Genetic Loci Influencing Myocardial Mass.
|
27659466 |
2016 |
rs1178702025
|
Entrez Id: |
26040 |
Gene Symbol: |
SETBP1 |
SETBP1
|
Myeloid Leukemia, Chronic
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs11874040
|
Entrez Id: |
26040 |
Gene Symbol: |
SETBP1 |
SETBP1
|
Systolic Pressure
|
|
0.700 |
GeneticVariation |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
rs11874040
|
Entrez Id: |
26040 |
Gene Symbol: |
SETBP1 |
SETBP1
|
Body mass index
|
A |
0.700 |
GeneticVariation |
GWASCAT |
Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.
|
30239722 |
2019 |
rs1276250
|
Entrez Id: |
26040 |
Gene Symbol: |
SETBP1 |
SETBP1
|
Alopecia
|
C |
0.700 |
GeneticVariation |
GWASCAT |
Genetic prediction of male pattern baldness.
|
28196072 |
2017 |
rs1555706391
|
Entrez Id: |
26040 |
Gene Symbol: |
SETBP1 |
SETBP1
|
Dysmorphic features
|
T |
0.700 |
CausalMutation |
CLINVAR |
West syndrome in a patient with Schinzel-Giedion syndrome.
|
25028416 |
2015 |
rs1555706391
|
Entrez Id: |
26040 |
Gene Symbol: |
SETBP1 |
SETBP1
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation |
CLINVAR |
Schinzel-Giedion syndrome: report of splenopancreatic fusion and proposed diagnostic criteria.
|
18398855 |
2008 |
rs1555706391
|
Entrez Id: |
26040 |
Gene Symbol: |
SETBP1 |
SETBP1
|
Muscle hypotonia
|
T |
0.700 |
CausalMutation |
CLINVAR |
De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
|
20436468 |
2010 |