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rs62508698(A;G)

From SNPedia
(Redirected from I4000478(C;T))

Carrier of a phenylketonuria mutation
Is agenotype
ofrs62508698
GenePAH
Chromosome12
Position102,852,819
mentionedby
Magnitude3
ReputeBad
Geno Mag Summary
(G;G) 0 common in clinvar
(A;G) 3 Carrier of a phenylketonuria mutation

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