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C-reactive protein and white blood cell count

HNF1A · rs2393791

Where this position leads

Conditions: C-Reactive Protein Levels, Blood Cell Counts

rs2393791 Condition: C-Reactive Protein Levels C-Reactive Protein Levels Condition Condition: Blood Cell Counts Blood Cell Counts Condition rs2393791 rs2393791 HNF1A

Strength of the evidence

3 / 4

Its strongest genetic-study result is p = 10−125, with 23 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 8,722 individuals.

The effect Each copy of the C allele shifted the measure 0.049 mg/dl lower; p = 3 × 10−9.

How common The C allele had a frequency of about 48% in the people studied.

Where it sits Chromosome 12, band 12q24.31 — in an intron of HNF1A.

How common each version is

CT
Korean KRGDB
C 47.9% · T 52.1%
Korean Korea4K
C 48.1% · T 51.9%
Japanese ToMMo
C 47.6% · T 52.4%
Vietnamese
C 36.8% · T 63.2%
World gnomAD
C 38.5% · T 61.5%
World 1000 Genomes
C 40.6% · T 59.4%
World TOPMed
C 37.9% · T 62.2%

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 C-reactive protein and white blood cell 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 C-reactive protein and white blood cell count. That is a smaller link than two copies.
T/T No copy of the version the research linked to C-reactive protein and white blood cell count. This is the starting point the study compared everyone against.
Source

Questions about rs2393791

What is rs2393791?

rs2393791 is a single position in the genome, in or near the HNF1A gene. Published research associates it with c-reactive protein and white blood cell count. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs2393791 linked to?

On MyGeneLog this position is linked to C-Reactive Protein Levels, Blood Cell Counts. The research behind each link, and its sources, are set out on that condition page.

Does having rs2393791 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 rs2393791 come from?

GWAS Catalog, Int J Immunogenet 2012, PMID:22788528. 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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C-reactive protein and white blood cell count (rs2393791). MyGeneLog™. https://www.mygenelog.com/variants/rs2393791

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