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rs5030852(A;G)

From SNPedia
Carrier of a phenylketonuria mutation
Is agenotype
ofrs5030852
GenePAH
Chromosome12
Position102,852,814
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;A) 6 Phenylketonuria
(A;G) 3 Carrier of a phenylketonuria mutation
(G;G) 0 common in clinvar
(G;T) 3 Carrier of a phenylketonuria mutation

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