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Chronotype

PITPNC1 · rs2916148

Where this position leads

Condition: Sleep and Circadian Rhythm

rs2916148 Condition: Sleep and Circadian Rhythm Sleep and Circadian Rhythm Condition rs2916148 rs2916148 PITPNC1

What the study found

Who was studied 449,734 European ancestry individuals; replicated in 248,098 European ancestry individuals.

The effect The reported allele is A; the catalogue records no effect size ; p = 3 × 10−14.

How common The A allele had a frequency of about 45% in the people studied.

Where it sits Chromosome 17, band 17q24.2 — in an intron of PITPNC1.

What each result means

A/A Two copies of the version the research linked to Chronotype. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/G One copy of the version the research linked to Chronotype. That is a smaller link than two copies.
G/G No copy of the version the research linked to Chronotype. This is the starting point the study compared everyone against.
Source
Genome-wide association analyses of chronotype in 697,828 individuals provides insights into circadian rhythms
Jones SE, Lane JM, Wood AR, van Hees VT, Tyrrell J, Beaumont RN, Jeffries AR, Dashti HS, Hillsdon M, Ruth KS, Tuke MA, Yaghootkar H
and 20 more — show all
Sharp SA, Jie Y, Thompson WD, Harrison JW, Dawes A, Byrne EM, Tiemeier H, Allebrandt KV, Bowden J, Ray DW, Freathy RM, Murray A, Mazzotti DR, Gehrman PR, Lawlor DA, Frayling TM, Rutter MK, Hinds DA, Saxena R, Weedon MN
Nature communications · 2019 · PMID 30696823 · open access

Questions about rs2916148

What is rs2916148?

rs2916148 is a single position in the genome, in or near the PITPNC1 gene. Published research associates it with chronotype. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs2916148 linked to?

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

Does having rs2916148 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 rs2916148 come from?

GWAS Catalog, Nature communications 2019, PMID:30696823. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Chronotype (rs2916148). MyGeneLog™. https://www.mygenelog.com/variants/rs2916148

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