Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
0.810 | GeneticVariation | BEFREE | 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 |
||||
|
T | 0.810 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | GeneticVariation | CLINVAR | Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. | 8218237 | 1993 |
|||
|
A | 0.800 | GeneticVariation | CLINVAR | Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). | 24922459 | 2014 |
|||
|
A | 0.800 | GeneticVariation | CLINVAR | Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. | 7695699 | 1994 |
|||
|
A | 0.800 | GeneticVariation | CLINVAR | Collagen structure and stability. | 19344236 | 2009 |
|||
|
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 |
|||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
T | 0.800 | CausalMutation | CLINVAR | ||||||
|
A | 0.800 | CausalMutation | CLINVAR | ||||||
|
C | 0.800 | CausalMutation | CLINVAR |