rs863223491, COL5A2

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
CUI: C4552122
Disease: EHLERS-DANLOS SYNDROME, CLASSIC TYPE, 1
0.700 GeneticVariation CLINVAR Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. 23587214 2013
Ehlers-Danlos Syndrome
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
0.010 GeneticVariation BEFREE With the skin hyperextensibility, joint hypermobility, papyraceous scar revealed by physical examination, and the heterozygous pathogenic variant c1997G > A (p.P659P) in COL5A2 gene revealed by whole exome sequencing, the diagnosis of the classical Ehlers-Danlos syndrome was made. 31517854 2019