rs121912927, 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
0.800 GeneticVariation UNIPROT A single base mutation that substitutes serine for glycine 790 of the alpha 1 (III) chain of type III procollagen exposes an arginine and causes Ehlers-Danlos syndrome IV. 2492273 1989
Ehlers-Danlos Syndrome, Type IV
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
0.800 CausalMutation CLINVAR
Ehlers-Danlos Syndrome, Type IV
CUI: C0268338
Disease: Ehlers-Danlos Syndrome, Type IV
0.800 CausalMutation CLINVAR