Gene: COL3A1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs112371422
rs112371422
COL3A1
T 0.700 CausalMutation CLINVAR

dbSNP: rs112456072
rs112456072
COL3A1
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs112456072
rs112456072
COL3A1
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs112456072
rs112456072
COL3A1
A 0.800 CausalMutation CLINVAR

dbSNP: rs112456072
rs112456072
COL3A1
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: rs112456072
rs112456072
COL3A1
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs112456072
rs112456072
COL3A1
0.800 GeneticVariation UNIPROT Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 25355838

2014
dbSNP: rs112456072
rs112456072
COL3A1
0.800 GeneticVariation UNIPROT Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 24882528

2014
dbSNP: rs112532745
rs112532745
COL3A1
T 0.700 CausalMutation CLINVAR Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). 24922459

2014
dbSNP: rs112978464
rs112978464
COL3A1
0.700 GeneticVariation UNIPROT

dbSNP: rs113485686
rs113485686
COL3A1
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs113485686
rs113485686
COL3A1
0.800 GeneticVariation UNIPROT Guidelines for the primary prevention of stroke: a statement for healthcare professionals from the American Heart Association/American Stroke Association. 25355838

2014
dbSNP: rs113485686
rs113485686
COL3A1
A 0.800 CausalMutation CLINVAR

dbSNP: rs113485686
rs113485686
COL3A1
0.800 GeneticVariation UNIPROT Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 24882528

2014
dbSNP: rs113485686
rs113485686
COL3A1
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs113485686
rs113485686
COL3A1
0.800 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965

2015
dbSNP: rs113485686
rs113485686
COL3A1
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: rs113871730
rs113871730
COL3A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs121912913
rs121912913
COL3A1
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs121912913
rs121912913
COL3A1
0.800 GeneticVariation UNIPROT Single-strand conformation polymorphism (SSCP) analysis of the COL3A1 gene detects a mutation that results in the substitution of glycine 1009 to valine and causes severe Ehlers-Danlos syndrome type IV. 8019562

1994
dbSNP: rs121912913
rs121912913
COL3A1
0.800 GeneticVariation UNIPROT Ehlers-Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Gly1003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmation. 8884076

1996
dbSNP: rs121912913
rs121912913
COL3A1
0.800 GeneticVariation UNIPROT Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother. 1496983

1992
dbSNP: rs121912913
rs121912913
COL3A1
0.800 GeneticVariation UNIPROT Ehlers-Danlos syndrome type IV: unusual congenital anomalies in a mother and son with a COL3A1 mutation and a normal collagen III protein profile. 12694234

2003
dbSNP: rs121912913
rs121912913
COL3A1
0.800 GeneticVariation UNIPROT Neurological presentation of Ehlers-Danlos syndrome type IV in a family with parental mosaicism. 12786757

2003
dbSNP: rs121912913
rs121912913
COL3A1
0.800 GeneticVariation UNIPROT Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 24882528

2014