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Standard

Platelet crit (UKB data field 30090)

near MARCHF7 · rs139042433

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−29, 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 0.0789 higher (95% confidence interval 0.064-0.093); p = 3 × 10−29.

How common The C allele had a frequency of about 2% in the people studied.

Where it sits Chromosome 2, band 2q24.2 — between genes, 6 kb from MARCHF7.

How common each version is

CT
Korean KRGDB
C 1.2% · T 98.8%
Korean Korea4K
C 1.1% · T 99.0%
Korean Korea1K
C 1.0% · T 99.0%
Japanese ToMMo
C 0.5% · T 99.5%
World gnomAD
C 2.2% · T 97.8%
World 1000 Genomes
C 2.5% · T 97.5%
World TOPMed
C 2.4% · T 97.6%

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

C/C Two copies of the version the research linked to Platelet crit (UKB data field 30090). That is the strongest link of the three results. A link in a study is not a diagnosis.
C/T One copy of the version the research linked to Platelet crit (UKB data field 30090). That is a smaller link than two copies.
T/T No copy of the version the research linked to Platelet crit (UKB data field 30090). This is the starting point the study compared everyone against.
Source

Quoting this page

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Platelet crit (UKB data field 30090) (rs139042433). MyGeneLog™. https://www.mygenelog.com/variants/rs139042433

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