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rs74315337(C;T)

From SNPedia
(Redirected from I5007115(A;G))
Carrier of a glaucoma-related mutation
Is agenotype
ofrs74315337
GeneMYOC
Chromosome1
Position171,652,476
mentionedby
Magnitude3
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

Unaffected in absence of another mutation in the MYOC gene; note some uncertainty over impact of this mutation.