Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs781096099
rs781096099
EVC2
G 0.700 GeneticVariation CLINVAR Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling. 19810119

2009
dbSNP: rs781096099
rs781096099
EVC2
G 0.700 GeneticVariation CLINVAR Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands. 19876929

2009
dbSNP: rs781096099
rs781096099
EVC2
G 0.700 GeneticVariation CLINVAR Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients. 17024374

2007