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rs142253670(C;T)

From SNPedia
Carrier of a mutation for Stargardt disease
Is agenotype
ofrs142253670
GeneABCA4
Chromosome1
Position94,008,252
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a mutation for Stargardt disease

Unaffected in absence of another pathogenic ABCA4 gene mutation