Variant: rs200300612 

    present in Gene: EVC2
    present in Chromosome: 4
    Position on Chromosome: 5565256
    Alleles of this Variant: A/G

rs200300612 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.

PMID 23220543 2013 Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.

PMID 19251731 2009 Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease.

rs200300612 in EVC2 gene and Weyers acrofacial dysostosis PMID 23220543 2013 Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.

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