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Sensitive

Pharmacokinetics of antiepileptic drugs in severe mental disorder (concentration drug ratio)

LOC100505718 · rs16935279

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−9, 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 Up to 185 European ancestry cases.

The effect Each copy of the C allele shifted the measure 0.792 lower; p = 5 × 10−10.

How common The C allele had a frequency of about 1% in the people studied.

Where it sits Chromosome 8, band 8q13.2 — in an intron of LINC01592.

How common each version is

CT
Korean KRGDB
C 20.4% · T 79.6%
Korean Korea4K
C 19.2% · T 80.8%
Korean Korea1K
C 20.5% · T 79.5%
Japanese ToMMo
C 24.1% · T 75.9%
Vietnamese
C 17.1% · T 82.9%
World gnomAD
C 2.2% · T 97.8%
World 1000 Genomes
C 7.5% · T 92.5%
World TOPMed
C 1.9% · T 98.1%

By ancestry gnomAD

East Asian
C 21.9% · T 78.0%
European (non-Finnish)
C 1.2% · T 98.8%
African / African American
C 0.5% · T 99.5%
South Asian
C 10.4% · T 89.5%
Admixed American (Latino)
C 1.6% · T 98.4%
Middle Eastern
C 1.7% · T 98.3%
Finnish
C 3.4% · T 96.6%
Ashkenazi Jewish
C 2.7% · T 97.4%

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. The ancestry rows are gnomAD's own groups (via Ensembl), as the survey defines them, not races.

What each result means

C/C Two copies of the version the research linked to Pharmacokinetics of antiepileptic drugs in severe mental disorder (concentration drug ratio). That is the strongest link of the three results. A link in a study is not a diagnosis.
C/T One copy of the version the research linked to Pharmacokinetics of antiepileptic drugs in severe mental disorder (concentration drug ratio). That is a smaller link than two copies.
T/T No copy of the version the research linked to Pharmacokinetics of antiepileptic drugs in severe mental disorder (concentration drug ratio). This is the starting point the study compared everyone against.
Source

Quoting this page

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Pharmacokinetics of antiepileptic drugs in severe mental disorder (concentration drug ratio) (rs16935279). MyGeneLog™. https://www.mygenelog.com/variants/rs16935279

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