Sensitive

Ischemic heart disease (PheCode 411)

SWAP70 · rs378825

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

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 31,355 British ancestry cases, 377,103 British ancestry controls.

The effect The reported allele is G; the catalogue records no effect size ; p = 3 × 10⁻⁸.

How common The G allele had a frequency of about 43% in the people studied.

Where it sits Chromosome 11, band 11p15.4 — in an intron of SWAP70.

How common each version is

AG

Korean KRGDB

A 56.8% · G 43.2%

Korean Korea4K

A 57.1% · G 42.9%

Korean Korea1K

A 57.4% · G 42.6%

Japanese ToMMo

A 62.7% · G 37.3%

Vietnamese

A 62.2% · G 37.9%

World gnomAD

A 44.1% · G 55.9%

World 1000 Genomes

A 51.1% · G 48.9%

World TOPMed

A 44.9% · G 55.1%

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 No copy of the version the research linked to Ischemic heart disease (PheCode 411). This is the starting point the study compared everyone against.

A/G One copy of the version the research linked to Ischemic heart disease (PheCode 411). That is a smaller link than two copies.

G/G 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

Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies

Zhou W, Nielsen JB, Fritsche LG, Dey R, Gabrielsen ME, Wolford BN, LeFaive J, VandeHaar P, Gagliano SA, Gifford A, Bastarache LA, Wei WQ

and 7 more — show all

Denny JC, Lin M, Hveem K, Kang HM, Abecasis GR, Willer CJ, Lee S

Nature genetics · 2018 · PMID 30104761 · open access

Quoting this page

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Ischemic heart disease (PheCode 411) (rs378825). MyGeneLog™. https://www.mygenelog.com/variants/rs378825

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