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Standard

High density lipoprotein cholesterol levels

SH3YL1 · rs17713729

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−16, with 4 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 1,320,016 European ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.0158 higher (95% confidence interval 0.013-0.019); p = 7 × 10−17.

How common The C allele had a frequency of about 35% in the people studied.

Where it sits Chromosome 2, band 2p25.3 — in an intron of SH3YL1.

How common each version is

AC
Korean KRGDB
A 80.0% · C 20.0%
Korean Korea4K
A 81.0% · C 19.0%
Japanese ToMMo
A 78.2% · C 21.8%
Vietnamese
A 66.2% · C 33.8%
World gnomAD
A 70.5% · C 29.5%
World 1000 Genomes
A 73.4% · C 26.6%
World TOPMed
A 71.9% · C 28.1%

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 High density lipoprotein cholesterol levels. This is the starting point the study compared everyone against.
A/C One copy of the version the research linked to High density lipoprotein cholesterol levels. That is a smaller link than two copies.
C/C Two copies of the version the research linked to High density lipoprotein cholesterol levels. 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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High density lipoprotein cholesterol levels (rs17713729). MyGeneLog™. https://www.mygenelog.com/variants/rs17713729

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