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Standard

Lipoprotein A levels (UKB data field 30790)

PRKN · rs12527640

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−21, 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 394,642 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.0248 lower (95% confidence interval 0.02-0.03); p = 3 × 10−21.

How common The A allele had a frequency of about 24% in the people studied.

Where it sits Chromosome 6, band 6q26 — in an intron of PRKN.

How common each version is

AG
Korean Korea4K
A 0.0% · G 100.0%
Korean Korea1K
A 0.1% · G 99.9%
Japanese ToMMo
G 100.0%
Vietnamese
A 0.5% · G 99.5%
World gnomAD
A 16.9% · G 83.1%
World 1000 Genomes
A 9.7% · G 90.3%
World TOPMed
A 16.6% · G 83.4%

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 Lipoprotein A levels (UKB data field 30790). 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 Lipoprotein A levels (UKB data field 30790). That is a smaller link than two copies.
G/G No copy of the version the research linked to Lipoprotein A levels (UKB data field 30790). This is the starting point the study compared everyone against.
Source

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Lipoprotein A levels (UKB data field 30790) (rs12527640). MyGeneLog™. https://www.mygenelog.com/variants/rs12527640

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