Variant: rs1555635778 

    present in Gene: GUCY2D
    present in Chromosome: 17
    Position on Chromosome: 8014751
    Alleles of this Variant: C/T

rs1555635778 in GUCY2D gene and Amaurosis congenita of Leber, type 1 PMID 10636733 1999 A nonsense mutation in the retinal specific guanylate cyclase gene is the cause of Leber congenital amaurosis in a large inbred kindred from Jordan.

rs1555635778 in GUCY2D gene and Retinal cone dystrophy 2 PMID 10636733 1999 A nonsense mutation in the retinal specific guanylate cyclase gene is the cause of Leber congenital amaurosis in a large inbred kindred from Jordan.