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rs5030847(C;T)

From SNPedia

Carrier of a phenylketonuria mutation
Is agenotype
ofrs5030847
GenePAH
Chromosome12
Position102,852,903
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3 Carrier of a phenylketonuria mutation
(C;T) 3 Carrier of a phenylketonuria mutation
(T;T) 6 Phenyketonuria

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