Have questions? Visit https://www.reddit.com/r/SNPedia

rs28938473(T;T)

From SNPedia
Fundus flavimaculatus, a type of Stargardt disease, likely
Is agenotype
ofrs28938473
GeneABCA4
Chromosome1
Position94,007,731
mentionedby
Magnitude5
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a mutation for a type of Stargardt disease
(T;T) 5 Fundus flavimaculatus, a type of Stargardt disease, likely

This genotype is reported as pathogenic for Fundus flavimaculatus, a type of Stargardt disease (with a later age of onset than classical Stargardt). See links at rs28938473.