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Standard

Aromatic-L-amino-acid decarboxylase levels

DDC · rs11575302

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−22, with 1 associations in the GWAS Catalog.

How this is scored

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 2,935 Qatari ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.877 lower (95% confidence interval 0.7-1.05); p = 2 × 10−22.

How common The A allele had a frequency of about 2% in the people studied.

Where it sits Chromosome 7, band 7p12.1 — a synonymous change in DDC.

What ClinVar records

Classification Benign for Deficiency of aromatic-L-amino-acid decarboxylase, DDC-related disorder; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 6 submitters), last evaluated 2026-02-03. ClinVar record 360441 NM_001082971.2(DDC):c.234C>T (p.Ala78=)

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
World gnomAD
A 5.0% · G 95.0%
World 1000 Genomes
A 4.5% · G 95.5%
World TOPMed
A 5.5% · G 94.5%

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.

What each result means

A/A Two copies of the version the research linked to Aromatic-L-amino-acid decarboxylase levels. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/G One copy of the version the research linked to Aromatic-L-amino-acid decarboxylase levels. That is a smaller link than two copies.
G/G No copy of the version the research linked to Aromatic-L-amino-acid decarboxylase levels. This is the starting point the study compared everyone against.
Source

Quoting this page

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Aromatic-L-amino-acid decarboxylase levels (rs11575302). MyGeneLog™. https://www.mygenelog.com/variants/rs11575302

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