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Basophil count

ERG · rs78762153

Strength of the evidence

3 / 4

Its strongest genetic-study result is p = 10−60, with 5 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 81,042 East Asian ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.156 SD units lower (95% confidence interval 0.14-0.17); p = 3 × 10−60.

How common The T allele had a frequency of about 92% in the people studied.

Where it sits Chromosome 21, band 21q22.2 — in an intron of ERG.

How common each version is

CT
Korean KRGDB
C 12.5% · T 87.5%
Korean Korea4K
C 9.5% · T 90.5%
Korean Korea1K
C 8.8% · T 91.2%
Japanese ToMMo
C 8.2% · T 91.8%
Vietnamese
C 8.0% · T 92.0%
World gnomAD
C 1.6% · T 98.4%
World 1000 Genomes
C 3.2% · T 96.8%
World TOPMed
C 1.7% · T 98.3%

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

Questions about rs78762153

What is rs78762153?

rs78762153 is a single position in the genome, in or near the ERG gene. Published research associates it with basophil count. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs78762153 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs78762153 come from?

GWAS Catalog, Cell 2020, PMID:32888493. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Basophil count (rs78762153). MyGeneLog™. https://www.mygenelog.com/variants/rs78762153

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