Variant: rs104893789 

    present in Gene: RHO
    present in Chromosome: 3
    Position on Chromosome: 129532711
    Alleles of this Variant: C/A

rs104893789 in RHO gene and Night Blindness, Congenital Stationary, Autosomal Dominant 1 PMID 8358437 1993 Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness.

PMID 9888392 1999 A novel mutation within the rhodopsin gene (Thr-94-Ile) causing autosomal dominant congenital stationary night blindness.

PMID 8107847 1994 Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness.

PMID 7846071 1995 Dark-light: model for nightblindness from the human rhodopsin Gly-90-->Asp mutation.