Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1017946059
rs1017946059
EVC
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
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
0.800 GeneticVariation UNIPROT