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rs74315337(T;T)

From SNPedia
(Redirected from I5007115(A;A))
Reported to be recessive genotype leading to primary open angle glaucoma
Is agenotype
ofrs74315337
GeneMYOC
Chromosome1
Position171,652,476
mentionedby
Magnitude4.8
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of a glaucoma-related mutation
(T;T) 4.8 Reported to be recessive genotype leading to primary open angle glaucoma

see OMIM and ClinVar entries; note some uncertainty over nature of this mutation.