rs12297049

This is a intron variant variant in the PAH gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

phenylalanine measurement

Draisma HHM et al. “Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.” Nature Communications 6:7208 (2015)

Allele T

OR —

β 0.020

p 1.0e-10

N 7,478

Large GWAS

European

About PAH

This gene encodes a member of the biopterin-dependent aromatic amino acid hydroxylase protein family. The encoded phenylalanine hydroxylase enzyme hydroxylates phenylalanine to tyrosine and is the rate-limiting step in phenylalanine catabolism. Deficiency of this enzyme activity results in the autosomal recessive disorder phenylketonuria. [provided by RefSeq, Aug 2017]

View all PAH variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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