rs397514589
|
Entrez Id: |
6497 |
Gene Symbol: |
SKI |
SKI
|
Shprintzen-Goldberg syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.
|
24736733 |
2015 |
rs397514590
|
Entrez Id: |
6497 |
Gene Symbol: |
SKI |
SKI
|
Shprintzen-Goldberg syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.
|
24736733 |
2015 |
rs397514590
|
Entrez Id: |
6497 |
Gene Symbol: |
SKI |
SKI
|
Shprintzen-Goldberg syndrome
|
T |
0.800 |
CausalMutation |
CLINVAR |
The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.
|
24736733 |
2015 |
rs397514589
|
Entrez Id: |
6497 |
Gene Symbol: |
SKI |
SKI
|
Shprintzen-Goldberg syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review.
|
24357594 |
2014 |
rs397514590
|
Entrez Id: |
6497 |
Gene Symbol: |
SKI |
SKI
|
Shprintzen-Goldberg syndrome
|
T |
0.800 |
CausalMutation |
CLINVAR |
De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review.
|
24357594 |
2014 |
rs397514590
|
Entrez Id: |
6497 |
Gene Symbol: |
SKI |
SKI
|
Shprintzen-Goldberg syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: two new cases and a clinical review.
|
24357594 |
2014 |
rs397514589
|
Entrez Id: |
6497 |
Gene Symbol: |
SKI |
SKI
|
Shprintzen-Goldberg syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.
|
23023332 |
2012 |
rs397514589
|
Entrez Id: |
6497 |
Gene Symbol: |
SKI |
SKI
|
Shprintzen-Goldberg syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.
|
23103230 |
2012 |
rs397514590
|
Entrez Id: |
6497 |
Gene Symbol: |
SKI |
SKI
|
Shprintzen-Goldberg syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.
|
23023332 |
2012 |
rs397514590
|
Entrez Id: |
6497 |
Gene Symbol: |
SKI |
SKI
|
Shprintzen-Goldberg syndrome
|
T |
0.800 |
CausalMutation |
CLINVAR |
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.
|
23103230 |
2012 |
rs397514590
|
Entrez Id: |
6497 |
Gene Symbol: |
SKI |
SKI
|
Shprintzen-Goldberg syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.
|
23103230 |
2012 |
rs397514590
|
Entrez Id: |
6497 |
Gene Symbol: |
SKI |
SKI
|
Shprintzen-Goldberg syndrome
|
T |
0.800 |
CausalMutation |
CLINVAR |
Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm.
|
23023332 |
2012 |
rs397514589
|
Entrez Id: |
6497 |
Gene Symbol: |
SKI |
SKI
|
Shprintzen-Goldberg syndrome
|
A |
0.800 |
GeneticVariation |
CLINVAR |
|
|
|
rs397514589
|
Entrez Id: |
6497 |
Gene Symbol: |
SKI |
SKI
|
Shprintzen-Goldberg syndrome
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs397514589
|
Entrez Id: |
6497 |
Gene Symbol: |
SKI |
SKI
|
Shprintzen-Goldberg syndrome
|
G |
0.800 |
GeneticVariation |
CLINVAR |
|
|
|
rs869312901
|
Entrez Id: |
6497 |
Gene Symbol: |
SKI |
SKI
|
Shprintzen-Goldberg syndrome
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs869312901
|
Entrez Id: |
6497 |
Gene Symbol: |
SKI |
SKI
|
Shprintzen-Goldberg syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs377599
|
Entrez Id: |
6497 |
Gene Symbol: |
SKI |
SKI
|
Body Height
|
|
0.700 |
GeneticVariation |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
rs76154380
|
Entrez Id: |
6497 |
Gene Symbol: |
SKI |
SKI
|
Vital capacity
|
|
0.700 |
GeneticVariation |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
rs76875252
|
Entrez Id: |
6497 |
Gene Symbol: |
SKI |
SKI
|
RDW - Red blood cell distribution width result
|
|
0.700 |
GeneticVariation |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
rs76875252
|
Entrez Id: |
6497 |
Gene Symbol: |
SKI |
SKI
|
Red cell distribution width determination
|
|
0.700 |
GeneticVariation |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
rs1692580
|
Entrez Id: |
6497 |
Gene Symbol: |
SKI |
SKI
|
Coronary Artery Disease
|
T |
0.700 |
GeneticVariation |
GWASCAT |
Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.
|
29212778 |
2018 |
rs260508
|
Entrez Id: |
6497 |
Gene Symbol: |
SKI |
SKI
|
Systolic Pressure
|
T |
0.700 |
GeneticVariation |
GWASCAT |
Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits.
|
30224653 |
2018 |
rs4648819
|
Entrez Id: |
6497 |
Gene Symbol: |
SKI |
SKI
|
Electrocardiogram: P-R interval
|
G |
0.700 |
GeneticVariation |
GWASCAT |
PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity.
|
30046033 |
2018 |
rs61776614
|
Entrez Id: |
6497 |
Gene Symbol: |
SKI |
SKI
|
Physical Activity Measurement
|
C |
0.700 |
GeneticVariation |
GWASCAT |
GWAS identifies 14 loci for device-measured physical activity and sleep duration.
|
30531941 |
2018 |