ABCA4 rs146604169: what the research says
This SNP is involved in the retinal phototransduction cycle and linked to Stargardt disease and age-related macular degeneration predisposition.
Rare in general populations; pathogenic in recessive forms.
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Well-characterized pathogenic missense variant in ABCA4 causing autosomal recessive Stargardt disease and cone-rod dystrophy.
Genomic variant within the ATP-binding cassette retinal transporter ABCA4 locus implicated in retinal degenerations and macular disease.
Known as the Gly1961Glu (G1961E) variant in ABCA4, a prevalent hypomorphic mutation contributing to late-onset Stargardt disease and cone-rod dystrophy.
This variant is associated with carrier status for Stargardt disease, an inherited retinal disorder.
A well-documented pathogenic missense change in ABCA4 causing autosomal recessive Stargardt disease and cone-rod dystrophy.
This variant is associated with carrier status for Stargardt disease, an inherited retinal disorder.