Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1553812417
rs1553812417
Entrez Id: 132884
Gene Symbol: EVC2
EVC2
CUI: C0013903
Disease:
Ellis-Van Creveld Syndrome
TC 0.700 CausalMutation CLINVAR