Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587779588
rs587779588
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		A 0.800 CausalMutation CLINVAR The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome. 25758994

2015
dbSNP: rs587779588
rs587779588
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		A 0.800 CausalMutation CLINVAR Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). 24922459

2014
dbSNP: rs587779588
rs587779588
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		A 0.800 CausalMutation CLINVAR Collagen structure and stability. 19344236

2009
dbSNP: rs587779588
rs587779588
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		A 0.800 CausalMutation CLINVAR Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution. 7695699

1994
dbSNP: rs587779588
rs587779588
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		A 0.800 CausalMutation CLINVAR Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence. 8218237

1993
dbSNP: rs587779588
rs587779588
COL3A1
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
Ehlers-Danlos Syndrome, Type IV 		T 0.800 CausalMutation CLINVAR