rs5030858
A SNP in the PAH gene on chromosome 12. Its most notable genotype is A;A: Phenylketonuria
- Gene
- PAH
- Location
- Chr 12102,840,493 (GRCh38)
- Highest magnitude
- 6.0Very important
- Tested on
- 23andMe, AncestryDNA, FamilyTreeDNA
- Minor allele frequency
- <1%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- G;GGoodcommon in clinvar
- A;GBadCarrier of a phenylketonuria mutation
- A;AMost notableBadPhenylketonuria
SNPedia records rs5030858 on the minus strand: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other PAH SNPs
- rs5030841G;GPhenylketonuriaVery important
- rs5030843T;TPhenyketonuriaVery important
- rs5030846A;APhenyketonuriaVery important
- rs5030847A;APhenyketonuriaVery important
- rs5030849T;TPHENYLKETONURIA, MILDVery important
- rs5030850A;APhenyketonuriaVery important
- rs5030851A;APhenyketonuriaVery important
- rs5030852T;TPhenylketonuriaVery important
Notes
From SNPedia
Notes
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.
A;G
Phenylketonuria mutation carrier; unaffected unless a second PKU mutation is present.
Source and license
Adapted from rs5030858 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.