rs5030858, also known as Arg408Trp or R408W, is a SNP in the phenylalanine hydroxylase PAH gene on chromosome 12. If present in two copies, or present along with another PAH mutant, this SNP is associated with phenylketonuria.

A good write-up on this SNP can be found at OMIM.


Parent Gene: PAH

Importance: 1
Less common allele: A = 0%
More common allele: G = 100%
My Genotype: Log In
Risk Allele: T
Significance: Pathogenic