Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852652
rs137852652
Entrez Id: 1311
Gene Symbol: COMP
COMP
CUI: C4016660
Disease:
EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, SEVERE
A 0.700 CausalMutation CLINVAR