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Standard

KLRF1 protein levels

POLR1HASP · rs1632881

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−20, 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 47,745 European ancestry individuals.

The effect Each copy of the G allele shifted the measure 0.0567 lower (95% confidence interval 0.044-0.07); p = 4 × 10−21.

How common The G allele had a frequency of about 76% in the people studied.

Where it sits Chromosome 6, band 6p22.1 — in an intron of POLR1HASP.

How common each version is

GT
Korean KRGDB
G 92.2% · T 7.8%
Korean Korea4K
G 49.0% · T 51.0%
Japanese ToMMo
G 47.7% · T 52.3%
Vietnamese
G 87.8% · T 12.2%
World gnomAD
G 54.0% · T 46.0%
World 1000 Genomes
G 80.6% · T 19.4%
World TOPMed
G 74.4% · T 25.6%

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

G/G Two copies of the version the research linked to KLRF1 protein levels. That is the strongest link of the three results. A link in a study is not a diagnosis.
G/T One copy of the version the research linked to KLRF1 protein levels. That is a smaller link than two copies.
T/T No copy of the version the research linked to KLRF1 protein levels. This is the starting point the study compared everyone against.
Source

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KLRF1 protein levels (rs1632881). MyGeneLog™. https://www.mygenelog.com/variants/rs1632881

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