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rs5030858(C;T)

From SNPedia
(Redirected from I5012643(A;G))

Carrier of a phenylketonuria mutation
Is agenotype
ofrs5030858
GenePAH
Chromosome12
Position102,840,493
Merged fromRs28934898
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(T;T) 6 Phenylketonuria
(C;T) 3 Carrier of a phenylketonuria mutation

Phenylketonuria mutation carrier; unaffected unless a second PKU mutation is present.