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rs1801147(C;G)

From SNPedia
Carrier of a phenylketonuria mutation
Is agenotype
ofrs1801147
GenePAH
Chromosome12
Position102,855,233
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 3 Carrier of a phenylketonuria mutation

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