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rs199475676(C;G)

From SNPedia
Carrier of a phenylketonuria mutation
Is agenotype
ofrs199475676
GenePAH
Chromosome12
Position102,852,858
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

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