Gene: COL3A1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587779705
rs587779705
COL3A1
T 0.800 GeneticVariation CLINVAR Oral phenotype and scoring of vascular Ehlers-Danlos syndrome: a case-control study. 22492385

2012
dbSNP: rs587779705
rs587779705
COL3A1
T 0.800 GeneticVariation CLINVAR Allele-specific siRNA knockdown as a personalized treatment strategy for vascular Ehlers-Danlos syndrome in human fibroblasts. 22038052

2012
dbSNP: rs587779489
rs587779489
COL3A1 ; MIR3606
A 0.800 CausalMutation CLINVAR Clinical and genetic features of 20 Japanese patients with vascular-type Ehlers-Danlos syndrome. 20518783

2010
dbSNP: rs587779691
rs587779691
COL3A1
A 0.800 GeneticVariation CLINVAR Inferring the functional effects of mutation through clusters of mutations in homologous proteins. 20052764

2010
dbSNP: rs121912918
rs121912918
COL3A1
A 0.800 GeneticVariation CLINVAR Collagen structure and stability. 19344236

2009
dbSNP: rs121912926
rs121912926
COL3A1
A 0.800 CausalMutation CLINVAR Collagen structure and stability. 19344236

2009
dbSNP: rs587779427
rs587779427
COL3A1
T 0.800 CausalMutation CLINVAR Collagen structure and stability. 19344236

2009
dbSNP: rs587779427
rs587779427
COL3A1
T 0.800 CausalMutation CLINVAR An unusual presentation of Ehlers-Danlos syndrome vascular type with deep vein thrombosis: a case for multidisciplinary management. 19248182

2009
dbSNP: rs587779431
rs587779431
COL3A1
A 0.800 GeneticVariation CLINVAR Collagen structure and stability. 19344236

2009
dbSNP: rs587779489
rs587779489
COL3A1 ; MIR3606
A 0.800 CausalMutation CLINVAR Collagen structure and stability. 19344236

2009
dbSNP: rs587779584
rs587779584
COL3A1 ; MIR3606
A 0.800 CausalMutation CLINVAR Collagen structure and stability. 19344236

2009
dbSNP: rs587779588
rs587779588
COL3A1
A 0.800 CausalMutation CLINVAR Collagen structure and stability. 19344236

2009
dbSNP: rs587779691
rs587779691
COL3A1
A 0.800 CausalMutation CLINVAR Collagen structure and stability. 19344236

2009
dbSNP: rs587779704
rs587779704
COL3A1
T 0.800 GeneticVariation CLINVAR Collagen structure and stability. 19344236

2009
dbSNP: rs121912926
rs121912926
COL3A1
A 0.800 CausalMutation CLINVAR MRI of great vessel morphology and function in Ehlers-Danlos syndrome type IV. 18043893

2008
dbSNP: rs587779705
rs587779705
COL3A1
T 0.800 GeneticVariation CLINVAR MRI of great vessel morphology and function in Ehlers-Danlos syndrome type IV. 18043893

2008
dbSNP: rs121912926
rs121912926
COL3A1
A 0.800 CausalMutation CLINVAR Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. 10706896

2000
dbSNP: rs587779489
rs587779489
COL3A1 ; MIR3606
A 0.800 CausalMutation CLINVAR Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. 10706896

2000
dbSNP: rs587779584
rs587779584
COL3A1 ; MIR3606
A 0.800 CausalMutation CLINVAR Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. 10706896

2000
dbSNP: rs587779691
rs587779691
COL3A1
A 0.800 GeneticVariation CLINVAR Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. 10706896

2000
dbSNP: rs587779691
rs587779691
COL3A1
A 0.800 CausalMutation CLINVAR Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. 10706896

2000
dbSNP: rs587779705
rs587779705
COL3A1
T 0.800 GeneticVariation CLINVAR Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. 10706896

2000
dbSNP: rs587779709
rs587779709
COL3A1
T 0.800 GeneticVariation CLINVAR Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. 10706896

2000
dbSNP: rs587779584
rs587779584
COL3A1 ; MIR3606
A 0.800 CausalMutation CLINVAR Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis. 9036918

1997
dbSNP: rs121912918
rs121912918
COL3A1
A 0.800 GeneticVariation CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699

1994