Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs763220502
rs763220502
SLC2A10
A 0.800 CausalMutation CLINVAR GLUT10 deficiency leads to oxidative stress and non-canonical αvβ3 integrin-mediated TGFβ signalling associated with extracellular matrix disarray in arterial tortuosity syndrome skin fibroblasts. 26376865

2015
dbSNP: rs121908172
rs121908172
SLC2A10
0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). 25173340

2014
dbSNP: rs564317065
rs564317065
SLC2A10
0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). 25173340

2014
dbSNP: rs753723351
rs753723351
SLC2A10
0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). 25173340

2014
dbSNP: rs763220502
rs763220502
SLC2A10
A 0.800 CausalMutation CLINVAR Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review. 25373504

2014
dbSNP: rs763220502
rs763220502
SLC2A10
0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). 25173340

2014
dbSNP: rs864309480
rs864309480
SLC2A10
0.800 GeneticVariation UNIPROT 2014 ESC Guidelines on the diagnosis and treatment of aortic diseases: Document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. The Task Force for the Diagnosis and Treatment of Aortic Diseases of the European Society of Cardiology (ESC). 25173340

2014
dbSNP: rs771028960
rs771028960
SLC2A10
A 0.800 GeneticVariation CLINVAR Artery tortuosity syndrome exhibiting early-onset emphysema with novel compound heterozygous SLC2A10 mutations. 23494979

2013
dbSNP: rs771028960
rs771028960
SLC2A10
A 0.800 CausalMutation CLINVAR Artery tortuosity syndrome exhibiting early-onset emphysema with novel compound heterozygous SLC2A10 mutations. 23494979

2013
dbSNP: rs121908172
rs121908172
SLC2A10
0.800 GeneticVariation UNIPROT Evaluation of the adolescent or adult with some features of Marfan syndrome. 22237449

2012
dbSNP: rs564317065
rs564317065
SLC2A10
0.800 GeneticVariation UNIPROT Evaluation of the adolescent or adult with some features of Marfan syndrome. 22237449

2012
dbSNP: rs753723351
rs753723351
SLC2A10
0.800 GeneticVariation UNIPROT Evaluation of the adolescent or adult with some features of Marfan syndrome. 22237449

2012
dbSNP: rs763220502
rs763220502
SLC2A10
0.800 GeneticVariation UNIPROT Evaluation of the adolescent or adult with some features of Marfan syndrome. 22237449

2012
dbSNP: rs864309480
rs864309480
SLC2A10
0.800 GeneticVariation UNIPROT Evaluation of the adolescent or adult with some features of Marfan syndrome. 22237449

2012
dbSNP: rs80358230
rs80358230
SLC2A10
G 0.800 CausalMutation CLINVAR A novel missense and a recurrent mutation in SLC2A10 gene of patients affected with arterial tortuosity syndrome. 18774132

2009
dbSNP: rs121908172
rs121908172
SLC2A10
0.800 GeneticVariation UNIPROT Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. 17935213

2008
dbSNP: rs121908172
rs121908172
SLC2A10
T 0.800 CausalMutation CLINVAR Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. 17935213

2008
dbSNP: rs564317065
rs564317065
SLC2A10
0.800 GeneticVariation UNIPROT Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. 17935213

2008
dbSNP: rs564317065
rs564317065
SLC2A10
A 0.800 CausalMutation CLINVAR Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. 17935213

2008
dbSNP: rs753723351
rs753723351
SLC2A10
A 0.800 CausalMutation CLINVAR Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. 17935213

2008
dbSNP: rs763220502
rs763220502
SLC2A10
0.800 GeneticVariation UNIPROT Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. 17935213

2008
dbSNP: rs763220502
rs763220502
SLC2A10
A 0.800 CausalMutation CLINVAR Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. 17935213

2008
dbSNP: rs771028960
rs771028960
SLC2A10
A 0.800 GeneticVariation CLINVAR Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. 17935213

2008
dbSNP: rs771028960
rs771028960
SLC2A10
0.800 GeneticVariation UNIPROT Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. 17935213

2008
dbSNP: rs771028960
rs771028960
SLC2A10
A 0.800 CausalMutation CLINVAR Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. 17935213

2008