Variant: rs104893961 

    present in Gene: GJA1
    present in Chromosome: 6
    Position on Chromosome: 121446897
    Alleles of this Variant: A/C

rs104893961 in GJA1 gene and Oculo-dento-digital syndrome PMID 16816024 2006 A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome.