Variant: rs764670582 

    present in Gene: GJA1
    present in Chromosome: 6
    Position on Chromosome: 121447563
    Alleles of this Variant: G/A

rs764670582 in GJA1 gene and Craniometaphyseal dysplasia, autosomal recessive type PMID 23951358 2013 A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia.