rs794728199, FBN1

N. diseases: 3
Disease: Ehlers-Danlos Syndrome, Type IV ×
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
0.010 GeneticVariation BEFREE Ehlers-Danlos syndrome type IV is associated with a novel G984R COL3A1 mutation. 25776230 2015