Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1017946059
rs1017946059
EVC
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		A 0.800 GeneticVariation CLINVAR Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. 23220543

2013
dbSNP: rs1017946059
rs1017946059
EVC
CUI: C0013903
Disease: Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome 		A 0.800 GeneticVariation CLINVAR A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family. 19744229

2010
dbSNP: rs1017946059
rs1017946059
EVC
CUI: C0457013
Disease: Weyers acrofacial dysostosis
Weyers acrofacial dysostosis 		A 0.700 GeneticVariation CLINVAR A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family. 19744229

2010