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Sensitive

Ischemic heart disease (PheCode 411)

near RAB23 · rs430918

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−7, 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 31,355 British ancestry cases, 377,103 British ancestry controls.

The effect The reported allele is T; the catalogue records no effect size ; p = 5 × 10−8.

How common The T allele had a frequency of about 7% in the people studied.

Where it sits Chromosome 6, band 6p11.2 — between genes, 26.2 kb from RAB23.

How common each version is

CT
Korean KRGDB
C 3.9% · T 96.1%
Korean Korea4K
C 4.0% · T 96.0%
Korean Korea1K
C 3.4% · T 96.6%
Japanese ToMMo
C 3.5% · T 96.5%
World gnomAD
C 12.9% · T 87.1%
World 1000 Genomes
C 12.0% · T 88.0%
World TOPMed
C 13.7% · T 86.3%

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

C/C No copy of the version the research linked to Ischemic heart disease (PheCode 411). This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Ischemic heart disease (PheCode 411). That is a smaller link than two copies.
T/T Two copies of the version the research linked to Ischemic heart disease (PheCode 411). 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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Ischemic heart disease (PheCode 411) (rs430918). MyGeneLog™. https://www.mygenelog.com/variants/rs430918

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