Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913568
rs121913568
ACAN
CUI: C2748544
Disease: Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spondyloepimetaphyseal Dysplasia, Aggrecan Type 		0.800 GeneticVariation UNIPROT A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan. 19110214

2009
dbSNP: rs121913568
rs121913568
ACAN
CUI: C2748544
Disease: Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Spondyloepimetaphyseal Dysplasia, Aggrecan Type 		A 0.800 CausalMutation CLINVAR