Variant: rs864309703 

    present in Gene: GJA8
    present in Chromosome: 1
    Position on Chromosome: 147908106
    Alleles of this Variant: G/A;C;T

rs864309703 in GJA8 gene and Congenital cataract PMID 26694549 2016 Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

rs864309703 in GJA8 gene and Multiple congenital anomalies PMID 26694549 2016 Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

PMID 20806042 2010 A novel mutation in GJA8 causing congenital cataract-microcornea syndrome in a Chinese pedigree.

PMID 27785597 2017 Exome sequencing identifies a novel mutation in GJA8 associated with inherited cataract in a Chinese family.