Gene: COL3A1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912918
rs121912918
COL3A1
A 0.800 GeneticVariation CLINVAR The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome. 25758994

2015
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
dbSNP: rs121912918
rs121912918
COL3A1
A 0.800 GeneticVariation CLINVAR Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). 24922459

2014
dbSNP: rs121912918
rs121912918
COL3A1
A 0.800 GeneticVariation CLINVAR Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. 8218237

1993
dbSNP: rs121912918
rs121912918
COL3A1
A 0.800 GeneticVariation CLINVAR Collagen structure and stability. 19344236

2009
dbSNP: rs121912923
rs121912923
COL3A1
T 0.800 GeneticVariation CLINVAR

dbSNP: rs587779431
rs587779431
COL3A1
A 0.800 GeneticVariation CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699

1994
dbSNP: rs587779431
rs587779431
COL3A1
A 0.800 GeneticVariation CLINVAR The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome. 25758994

2015
dbSNP: rs587779431
rs587779431
COL3A1
A 0.800 GeneticVariation CLINVAR Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. 8218237

1993
dbSNP: rs587779431
rs587779431
COL3A1
A 0.800 GeneticVariation CLINVAR Collagen structure and stability. 19344236

2009
dbSNP: rs587779431
rs587779431
COL3A1
A 0.800 GeneticVariation CLINVAR Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). 24922459

2014
dbSNP: rs587779691
rs587779691
COL3A1
A 0.800 GeneticVariation CLINVAR Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). 24922459

2014
dbSNP: rs587779691
rs587779691
COL3A1
A 0.800 GeneticVariation CLINVAR The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome. 25758994

2015
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 GeneticVariation CLINVAR Inferring the functional effects of mutation through clusters of mutations in homologous proteins. 20052764

2010
dbSNP: rs587779704
rs587779704
COL3A1
T 0.800 GeneticVariation CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699

1994
dbSNP: rs587779704
rs587779704
COL3A1
T 0.800 GeneticVariation CLINVAR Collagen structure and stability. 19344236

2009
dbSNP: rs587779704
rs587779704
COL3A1
T 0.800 GeneticVariation CLINVAR The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome. 25758994

2015
dbSNP: rs587779704
rs587779704
COL3A1
T 0.800 GeneticVariation CLINVAR Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). 24922459

2014
dbSNP: rs587779704
rs587779704
COL3A1
A 0.800 GeneticVariation CLINVAR

dbSNP: rs587779704
rs587779704
COL3A1
T 0.800 GeneticVariation CLINVAR Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. 8218237

1993
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 The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome. 25758994

2015
dbSNP: rs587779705
rs587779705
COL3A1
T 0.800 GeneticVariation CLINVAR Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). 24922459

2014
dbSNP: rs587779705
rs587779705
COL3A1
T 0.800 GeneticVariation CLINVAR MRI of great vessel morphology and function in Ehlers-Danlos syndrome type IV. 18043893

2008