Gene: COL3A1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057521106
rs1057521106
COL3A1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1057524653
rs1057524653
COL3A1 ; MIR3606
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060500187
rs1060500187
COL3A1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060500193
rs1060500193
COL3A1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060500194
rs1060500194
COL3A1 ; MIR3606
C 0.700 GeneticVariation CLINVAR Collagen structure and stability. 19344236

2009
dbSNP: rs1060500194
rs1060500194
COL3A1 ; MIR3606
C 0.700 GeneticVariation CLINVAR The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome. 25758994

2015
dbSNP: rs1060500194
rs1060500194
COL3A1 ; MIR3606
C 0.700 GeneticVariation CLINVAR Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). 24922459

2014
dbSNP: rs1060500194
rs1060500194
COL3A1 ; MIR3606
C 0.700 GeneticVariation CLINVAR Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. 8218237

1993
dbSNP: rs1060500194
rs1060500194
COL3A1 ; MIR3606
C 0.700 GeneticVariation CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699

1994
dbSNP: rs1060500199
rs1060500199
COL3A1 ; MIR3606
A 0.700 CausalMutation CLINVAR

dbSNP: rs1060500200
rs1060500200
COL3A1 ; LOC105373791
C 0.700 CausalMutation CLINVAR

dbSNP: rs1060500203
rs1060500203
COL3A1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060500204
rs1060500204
COL3A1 ; MIR3606
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1085307896
rs1085307896
COL3A1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs111505097
rs111505097
COL3A1
0.800 GeneticVariation UNIPROT Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 24882528

2014
dbSNP: rs111505097
rs111505097
COL3A1
T 0.800 CausalMutation CLINVAR

dbSNP: rs111505097
rs111505097
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: rs111505097
rs111505097
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: rs111505097
rs111505097
COL3A1
A 0.800 CausalMutation CLINVAR

dbSNP: rs111505097
rs111505097
COL3A1
0.800 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249

2013
dbSNP: rs111505097
rs111505097
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: rs111505097
rs111505097
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: rs111929073
rs111929073
COL3A1
T 0.700 GeneticVariation CLINVAR Vascular type of Ehlers-Danlos syndrome in a patient with ruptured aneurysm of the splenic artery. 17122455

2006
dbSNP: rs111929073
rs111929073
COL3A1
T 0.700 CausalMutation CLINVAR

dbSNP: rs111929073
rs111929073
COL3A1
T 0.700 GeneticVariation CLINVAR Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). 24922459

2014