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Standard

High-density lipoprotein levels

GJA1 · rs11961755

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−10, 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 507,850 East Asian ancestry individuals, 420,829 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.0189 lower (95% confidence interval 0.013-0.025); p = 1 × 10−10.

Where it sits Chromosome 6, band 6q22.31 — in an intron of GJA1.

How common each version is

AG
Korean KRGDB
A 0.5% · G 99.5%
Korean Korea4K
A 0.6% · G 99.4%
Japanese ToMMo
A 0.5% · G 99.5%
Vietnamese
A 5.1% · G 94.9%
World gnomAD
A 22.6% · G 77.4%
World 1000 Genomes
A 17.7% · G 82.3%
World TOPMed
A 21.2% · G 78.8%

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 High-density lipoprotein levels. 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 High-density lipoprotein levels. That is a smaller link than two copies.
G/G No copy of the version the research linked to High-density lipoprotein levels. This is the starting point the study compared everyone against.
Source

Quoting this page

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High-density lipoprotein levels (rs11961755). MyGeneLog™. https://www.mygenelog.com/variants/rs11961755

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