Variant: rs267606701 

    present in Gene: CANT1
    present in Chromosome: 17
    Position on Chromosome: 78993858
    Alleles of this Variant: G/A

rs267606701 in CANT1 gene and Multiple congenital anomalies PMID 22539336 2012 Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis.

PMID 25486376 2015 A novel CANT1 mutation in three Indian patients with Desbuquois dysplasia Kim type.

PMID 21037275 2011 CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.