Variant: rs1159758018 

    present in Gene: EVC2
    present in Chromosome: 4
    Position on Chromosome: 5631845
    Alleles of this Variant: TCCC/-

rs1159758018 in EVC2 gene and Ellis-Van Creveld Syndrome PMID 17024374 2007 Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.