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rs75193786(C;T)

From SNPedia
Carrier of a phenylketonuria mutation
Is agenotype
ofrs75193786
GenePAH
Chromosome12
Position102,894,893
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(A;T) 3 Carrier of a phenylketonuria mutation
(C;C) 6 Phenyketonuria
(C;T) 3 Carrier of a phenylketonuria mutation
(T;T) 0 common in clinvar

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