Variant: rs1553857801 

    present in Gene: EVC;EVC2
    present in Chromosome: 4
    Position on Chromosome: 5711382
    Alleles of this Variant: T/A

rs1553857801 in EVC;EVC2 gene and Ellis-Van Creveld Syndrome PMID 28854412 2017 Wide-spread cone-shaped epiphyses in two Saudi siblings with Ellis-van Creveld syndrome.

PMID 19810119 2009 Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.