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rs5030846(C;T)

From SNPedia
(Redirected from I3003398(A;G))

Carrier of a phenylketonuria mutation
Is agenotype
ofrs5030846
GenePAH
Chromosome12
Position102,852,930
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(T;T) 6 Phenyketonuria
(C;T) 3 Carrier of a phenylketonuria mutation

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