rs5030860
A SNP in the PAH gene on chromosome 12. Its most notable genotype is C;C: Hyperphenylalaninemia (non-phenylketonuria)
- Gene
- PAH
- Location
- Chr 12102,840,474 (GRCh38)
- Highest magnitude
- 5.9Very important
- Tested on
- AncestryDNA, FamilyTreeDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- T;TGoodcommon in clinvar
- C;TBadcarrier of hyperphenylalaninemia (non-PKU) allele
- C;CMost notableBadHyperphenylalaninemia (non-phenylketonuria)
SNPedia records rs5030860 on the minus strand: (A;A), (A;G), (G;G). 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
Show notes, about 160 words
rs5030860, also known as c.1241A>G, p.Tyr414Cys and Y414C, represents a variant in the PAH gene on chromosome 12. This variant is among the most common PKU-associated mutations seen in Scandinavia. While other mutations in the PAH gene may cause phenylketonuria, when inherited recessively, the rs5030860(G) mutation is associated with non-phenylketonuria hyperphenylalaninemia.OMIM The effect of tetrahydrobiopterin (BH4) treatment, the natural cofactor of PAH, has been tested in Y414C homozygotes. In 3 such Danish patients with PKU, 8-29 years of age, patients were treated with 20, 10, and 5 mg BH4/kg/day for 1 week on each dose, starting with 20 mg/kg. The three homozygous patients had phenylalanine declines of 73%, 51%, and 27%, respectively, indicating the effectiveness of this treatment.
C;T
see rs5030860
C;C
This genotype is associated with non-phenylketonuria hyperphenylalaninemia; consider treatment options. See more at rs5030860.
Source and license
Adapted from rs5030860 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.