Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356553
rs80356553
VCAN ; VCAN-AS1
A 0.700 CausalMutation CLINVAR De novo splice mutation in the versican gene in a family with Wagner syndrome. 23571384

2013
dbSNP: rs80356553
rs80356553
VCAN ; VCAN-AS1
T 0.700 CausalMutation CLINVAR Mutational hot spot potential of a novel base pair mutation of the CSPG2 gene in a family with Wagner syndrome. 19901218

2009
dbSNP: rs80356553
rs80356553
VCAN ; VCAN-AS1
T 0.700 CausalMutation CLINVAR Clinical characterisation and molecular analysis of Wagner syndrome. 17035272

2007
dbSNP: rs80356553
rs80356553
VCAN ; VCAN-AS1
T 0.700 CausalMutation CLINVAR Identification of the genetic defect in the original Wagner syndrome family. 16636652

2006
dbSNP: rs80356553
rs80356553
VCAN ; VCAN-AS1
T 0.700 GeneticVariation CLINVAR