Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587779705
rs587779705
0.700 GeneticVariation CLINVAR The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome. 25758994

2016

dbSNP: rs587779705
rs587779705
0.700 GeneticVariation CLINVAR Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). 24922459

2015

dbSNP: rs587779705
rs587779705
0.700 GeneticVariation CLINVAR Transforming growth factor-β and inflammation in vascular (type IV) Ehlers-Danlos syndrome. 24399159

2014

dbSNP: rs587779705
rs587779705
0.700 GeneticVariation CLINVAR A systematic approach to assessing the clinical significance of genetic variants. 24033266

2013

dbSNP: rs587779705
rs587779705
0.700 GeneticVariation CLINVAR Oral phenotype and scoring of vascular Ehlers-Danlos syndrome: a case-control study. 22492385

2012

dbSNP: rs587779705
rs587779705
0.700 GeneticVariation CLINVAR Allele-specific siRNA knockdown as a personalized treatment strategy for vascular Ehlers-Danlos syndrome in human fibroblasts. 22038052

2012

dbSNP: rs587779705
rs587779705
0.700 GeneticVariation CLINVAR MRI of great vessel morphology and function in Ehlers-Danlos syndrome type IV. 18043893

2008

dbSNP: rs587779705
rs587779705
0.700 GeneticVariation CLINVAR Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. 10706896

2000