Gene: SKI ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514589
rs397514589
SKI
0.800 GeneticVariation UNIPROT The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome. 24736733

2015
dbSNP: rs397514590
rs397514590
SKI
0.800 GeneticVariation UNIPROT The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome. 24736733

2015
dbSNP: rs397514590
rs397514590
SKI
T 0.800 CausalMutation CLINVAR The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome. 24736733

2015
dbSNP: rs397514589
rs397514589
SKI
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
dbSNP: rs397514590
rs397514590
SKI
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
dbSNP: rs397514590
rs397514590
SKI
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
dbSNP: rs397514589
rs397514589
SKI
0.800 GeneticVariation UNIPROT Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. 23023332

2012
dbSNP: rs397514589
rs397514589
SKI
0.800 GeneticVariation UNIPROT In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. 23103230

2012
dbSNP: rs397514590
rs397514590
SKI
0.800 GeneticVariation UNIPROT Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. 23023332

2012
dbSNP: rs397514590
rs397514590
SKI
T 0.800 CausalMutation CLINVAR In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. 23103230

2012
dbSNP: rs397514590
rs397514590
SKI
0.800 GeneticVariation UNIPROT In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. 23103230

2012
dbSNP: rs397514590
rs397514590
SKI
T 0.800 CausalMutation CLINVAR Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. 23023332

2012
dbSNP: rs397514589
rs397514589
SKI
A 0.800 GeneticVariation CLINVAR

dbSNP: rs397514589
rs397514589
SKI
A 0.800 CausalMutation CLINVAR

dbSNP: rs397514589
rs397514589
SKI
G 0.800 GeneticVariation CLINVAR

dbSNP: rs869312901
rs869312901
SKI
C 0.800 CausalMutation CLINVAR

dbSNP: rs869312901
rs869312901
SKI
0.800 GeneticVariation UNIPROT

dbSNP: rs387907306
rs387907306
SKI
A 0.700 GeneticVariation CLINVAR The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome. 24736733

2015
dbSNP: rs387907306
rs387907306
SKI
A 0.700 GeneticVariation CLINVAR In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome. 23103230

2012
dbSNP: rs387907306
rs387907306
SKI
A 0.700 GeneticVariation CLINVAR Mutations in the TGF-β repressor SKI cause Shprintzen-Goldberg syndrome with aortic aneurysm. 23023332

2012
dbSNP: rs1553189986
rs1553189986
SKI
A 0.700 CausalMutation CLINVAR Direct interaction of Ski with either Smad3 or Smad4 is necessary and sufficient for Ski-mediated repression of transforming growth factor-beta signaling. 12857746

2003
dbSNP: rs1553189986
rs1553189986
SKI
A 0.700 CausalMutation CLINVAR Structural mechanism of Smad4 recognition by the nuclear oncoprotein Ski: insights on Ski-mediated repression of TGF-beta signaling. 12419246

2002
dbSNP: rs1557806222
rs1557806222
SKI
C 0.700 GeneticVariation CLINVAR

dbSNP: rs387907303
rs387907303
SKI
A 0.700 CausalMutation CLINVAR

dbSNP: rs387907304
rs387907304
SKI
G 0.700 CausalMutation CLINVAR