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SSC-A on granulocyte

CDK6 · rs42031

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10⁻¹¹, 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 3,112 Sardinian (founder/genetic isolate) ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.204 lower (95% confidence interval 0.14-0.26); p = 3 × 10⁻¹¹.

How common The T allele had a frequency of about 25% in the people studied.

Where it sits Chromosome 7, band 7q21.2 — in the 3′ untranslated region of CDK6.

How common each version is

AT

Korean KRGDB

A 94.7% · T 5.3%

Korean Korea4K

A 94.6% · T 5.4%

Korean Korea1K

A 94.8% · T 5.2%

Japanese ToMMo

A 94.7% · T 5.3%

Vietnamese

A 93.4% · T 6.6%

World gnomAD

A 83.2% · T 16.9%

World 1000 Genomes

A 88.1% · T 11.9%

World TOPMed

A 83.5% · T 16.5%

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.

What each result means

A/A No copy of the version the research linked to SSC-A on granulocyte. This is the starting point the study compared everyone against.

A/T One copy of the version the research linked to SSC-A on granulocyte. That is a smaller link than two copies.

T/T Two copies of the version the research linked to SSC-A on granulocyte. That is the strongest link of the three results. A link in a study is not a diagnosis.

Source

Complex genetic signatures in immune cells underlie autoimmunity and inform therapy

Orrù V, Steri M, Sidore C, Marongiu M, Serra V, Olla S, Sole G, Lai S, Dei M, Mulas A, Virdis F, Piras MG

and 16 more — show all

Lobina M, Marongiu M, Pitzalis M, Deidda F, Loizedda A, Onano S, Zoledziewska M, Sawcer S, Devoto M, Gorospe M, Abecasis GR, Floris M, Pala M, Schlessinger D, Fiorillo E, Cucca F

Nature genetics · 2020 · PMID 32929287

Questions about rs42031

What is rs42031?

rs42031 is a single position in the genome, in or near the CDK6 gene. Published research associates it with ssc-a on granulocyte. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs42031 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 rs42031 come from?

GWAS Catalog, Nature genetics 2020, PMID:32929287. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

SSC-A on granulocyte (rs42031). MyGeneLog™. https://www.mygenelog.com/variants/rs42031

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