rs587779671, COL3A1

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Ehlers-Danlos Syndrome, Type IV
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
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
Ehlers-Danlos Syndrome, Type IV
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
0.700 GeneticVariation CLINVAR Survival is affected by mutation type and molecular mechanism in vascular Ehlers-Danlos syndrome (EDS type IV). 24922459 2014
Ehlers-Danlos Syndrome, Type IV
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
0.700 CausalMutation CLINVAR
Ehlers-Danlos Syndrome, Type IV
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
0.700 CausalMutation CLINVAR