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Standard

Carotid intima-media thickness (MTAG)

CAST · rs10064683

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−8, 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 at least 113,578 European ancestry individuals (MTAG boosted by 455,258 Alzheimer's disease samples).

The effect Each copy of the A allele shifted the measure 0.0243 higher (95% confidence interval 0.016-0.033); p = 1 × 10−8.

Where it sits Chromosome 5, band 5q15 — in an intron of CAST.

How common each version is

AG
Korean KRGDB
A 25.4% · G 74.6%
Korean Korea4K
A 26.5% · G 73.5%
Korean Korea1K
A 27.5% · G 72.5%
Japanese ToMMo
A 32.4% · G 67.6%
Vietnamese
A 31.9% · G 68.1%
World gnomAD
A 28.4% · G 71.5%
World 1000 Genomes
A 26.3% · G 73.7%
World TOPMed
A 29.3% · G 70.7%

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.

What each result means

A/A Two copies of the version the research linked to Carotid intima-media thickness (MTAG). 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 Carotid intima-media thickness (MTAG). That is a smaller link than two copies.
G/G No copy of the version the research linked to Carotid intima-media thickness (MTAG). This is the starting point the study compared everyone against.
Source

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Carotid intima-media thickness (MTAG) (rs10064683). MyGeneLog™. https://www.mygenelog.com/variants/rs10064683

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