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PAH · rs5030858
Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.
Strength of the evidence
ClinVar classifies it as disease-causing (or likely), reviewed at 3 of 4 stars. Its strongest genetic-study result is p = 10−197, with 1 associations in the GWAS Catalog.
4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.
What the study found
Who was studied 115,030 European ancestry individuals.
The effect Each copy of the G allele shifted the measure 1.55 lower (95% confidence interval 1.45-1.65); p = 4 × 10−198.
How common The G allele had a frequency of about 100% in the people studied.
Where it sits Chromosome 12, band 12q23.2 — a missense change in PAH.
What ClinVar records
Classification
Pathogenic for Phenylketonuria, Inborn genetic diseases, PAH-related disorder; reviewed by expert panel (3 of 4 stars, 44 submitters), last evaluated 2018-08-06.
ClinVar record 577 NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)
Change history MyGeneLog™ keeps a copy of every weekly release from 2026-10-19 and compares them. This position's classification has not changed since.
What this is ClinVar's aggregate record for this position (as of its 2026-11-09 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.
How common each version is
AG
A 0.1% · G 99.9%
A 0.0% · G 100.0%
A 0.1% · G 99.9%
The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study. No Korean figure for this position yet.
Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license
Phenylalanine levels (rs5030858). MyGeneLog™. https://www.mygenelog.com/variants/rs5030858