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Systolic blood pressure

CACNA1D · rs9810888

Where this position leads

Condition: Blood Pressure

rs9810888 Condition: Blood Pressure Blood Pressure Condition rs9810888 rs9810888 CACNA1D

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−11, with 4 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 11,816 Han Chinese ancestry individuals; replicated in 69,146 Han Chinese ancestry individuals.

The effect Each copy of the G allele shifted the measure 0.53 higher (95% confidence interval 0.33-0.73); p = 5 × 10−8.

How common The G allele had a frequency of about 39% in the people studied.

Where it sits Chromosome 3, band 3p21.1 — in an intron of CACNA1D.

How common each version is

GT
Korean KRGDB
G 40.2% · T 59.8%
Korean Korea4K
G 40.4% · T 59.6%
Korean Korea1K
G 38.6% · T 61.4%
Japanese ToMMo
G 39.7% · T 60.3%
Vietnamese
G 47.7% · T 52.3%
World gnomAD
G 51.1% · T 48.9%
World 1000 Genomes
G 46.4% · T 53.6%
World TOPMed
G 50.2% · T 49.8%

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 Systolic blood pressure. 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 Systolic blood pressure. That is a smaller link than two copies.
T/T No copy of the version the research linked to Systolic blood pressure. This is the starting point the study compared everyone against.
Source

Questions about rs9810888

What is rs9810888?

rs9810888 is a single position in the genome, in or near the CACNA1D gene. Published research associates it with systolic blood pressure. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs9810888 linked to?

On MyGeneLog this position is linked to Blood Pressure. The research behind each link, and its sources, are set out on that condition page.

Does having rs9810888 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 rs9810888 come from?

GWAS Catalog, Hum Mol Genet 2014, PMID:25249183. 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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Systolic blood pressure (rs9810888). MyGeneLog™. https://www.mygenelog.com/variants/rs9810888

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