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Standard

HDL cholesterol levels (UKB data field 30760)

MARK4 · rs346750

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−12, 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 394,642 European ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.0113 higher (95% confidence interval 0.008-0.0145); p = 7 × 10−13.

How common The C allele had a frequency of about 38% in the people studied.

Where it sits Chromosome 19, band 19q13.32 — in an intron of MARK4.

How common each version is

AC
Korean KRGDB
A 78.9% · C 21.1%
Korean Korea4K
A 79.2% · C 20.8%
Korean Korea1K
A 80.7% · C 19.3%
Japanese ToMMo
A 79.9% · C 20.1%
Vietnamese
A 81.6% · C 18.4%
World gnomAD
A 59.5% · C 40.5%
World 1000 Genomes
A 63.3% · C 36.7%
World TOPMed
A 60.6% · C 39.5%

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 HDL cholesterol levels (UKB data field 30760). This is the starting point the study compared everyone against.
A/C One copy of the version the research linked to HDL cholesterol levels (UKB data field 30760). That is a smaller link than two copies.
C/C Two copies of the version the research linked to HDL cholesterol levels (UKB data field 30760). 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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HDL cholesterol levels (UKB data field 30760) (rs346750). MyGeneLog™. https://www.mygenelog.com/variants/rs346750

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