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Standard

Lymphocyte count

near PTPRJ · rs7927682

Strength of the evidence

3 / 4

Its strongest genetic-study result is p = 10−50, 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 643,370 African American or Afro-Caribbean, African ancestry, European ancestry, East Asian ancestry, Hispanic or Latin American and South Asian ancestry individuals.

The effect The reported allele is C; the catalogue records no effect size ; p = 1 × 10−50.

How common The C allele had a frequency of about 21% in the people studied.

Where it sits Chromosome 11, band 11p11.2 — between genes, 54.3 kb from PTPRJ.

How common each version is

CT
Korean KRGDB
C 28.9% · T 71.1%
Korean Korea4K
C 27.9% · T 72.1%
Japanese ToMMo
C 29.2% · T 70.8%
Vietnamese
C 17.0% · T 83.0%
World gnomAD
C 22.6% · T 77.4%
World 1000 Genomes
C 22.7% · T 77.3%
World TOPMed
C 22.4% · T 77.6%

By ancestry gnomAD

East Asian
C 26.4% · T 73.6%
European (non-Finnish)
C 19.5% · T 80.5%
African / African American
C 29.7% · T 70.3%
South Asian
C 18.9% · T 81.1%
Admixed American (Latino)
C 17.2% · T 82.8%
Middle Eastern
C 22.4% · T 77.5%
Finnish
C 23.0% · T 77.0%
Ashkenazi Jewish
C 20.5% · T 79.5%

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. The ancestry rows are gnomAD's own groups (via Ensembl), as the survey defines them, not races.

What each result means

C/C Two copies of the version the research linked to Lymphocyte count. 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 Lymphocyte count. That is a smaller link than two copies.
T/T No copy of the version the research linked to Lymphocyte count. This is the starting point the study compared everyone against.
Source

Quoting this page

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Lymphocyte count (rs7927682). MyGeneLog™. https://www.mygenelog.com/variants/rs7927682

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