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Standard

Tenascin-X levels

SKIC2 · rs45451301

Strength of the evidence

3 / 4

Its strongest genetic-study result is p = 10−463, with 2 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 10,708 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 1.79 higher (95% confidence interval 1.71-1.86); p = 2 × 10−463.

How common The T allele had a frequency of about 97% in the people studied.

Where it sits Chromosome 6, band 6p21.33 — in an intron of SKIC2.

How common each version is

CT
World gnomAD
C 1.7% · T 98.3%
World 1000 Genomes
C 0.6% · T 99.4%
World TOPMed
C 1.4% · T 98.6%

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

C/C No copy of the version the research linked to Tenascin-X levels. This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Tenascin-X levels. That is a smaller link than two copies.
T/T Two copies of the version the research linked to Tenascin-X levels. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Quoting this page

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Tenascin-X levels (rs45451301). MyGeneLog™. https://www.mygenelog.com/variants/rs45451301

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