Gene Knowledge Graph
UTC
Standard

Essential tremor (PheCode 333.1)

LINC00323 · rs9982271

Where this position leads

Condition: Essential Tremor

rs9982271 Condition: Essential Tremor Essential Tremor Condition rs9982271 rs9982271 LINC00323

What the study found

Who was studied 1,505 African American or Afro-Caribbean cases, 119,311 African American or Afro-Caribbean controls, 13,720 European ancestry cases, 429,794 European ancestry controls, 920 Hispanic or Latin American cases, 58,304 Hispanic or Latin American controls.

The effect Each copy of the C allele shifted the measure 0.112 lower (95% confidence interval 0.086-0.137); p = 8 × 10−14.

How common The C allele had a frequency of about 81% in the people studied.

Where it sits Chromosome 21, band 21q22.2 — in a non-coding transcript of LINC00323.

What each result means

C/C Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Essential tremor (PheCode 333.1) compared to the general population.
C/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Essential tremor (PheCode 333.1).
T/T Published research associates this genotype with typical/baseline likelihood of Essential tremor (PheCode 333.1) — no copies of the reported risk allele.
Source
Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program
Verma A, Huffman JE, Rodriguez A, Conery M, Liu M, Ho YL, Kim Y, Heise DA, Guare L, Panickan VA, Garcon H, Linares F
and 59 more — show all
Costa L, Goethert I, Tipton R, Honerlaw J, Davies L, Whitbourne S, Cohen J, Posner DC, Sangar R, Murray M, Wang X, Dochtermann DR, Devineni P, Shi Y, Nandi TN, Assimes TL, Brunette CA, Carroll RJ, Clifford R, Duvall S, Gelernter J, Hung A, Iyengar SK, Joseph J, Kember R, Kranzler H, Kripke CM, Levey D, Luoh SW, Merritt VC, Overstreet C, Deak JD, Grant SFA, Polimanti R, Roussos P, Shakt G, Sun YV, Tsao N, Venkatesh S, Voloudakis G, Justice A, Begoli E, Ramoni R, Tourassi G, Pyarajan S, Tsao P, O'Donnell CJ, Muralidhar S, Moser J, Casas JP, Bick AG, Zhou W, Cai T, Voight BF, Cho K, Gaziano JM, Madduri RK, Damrauer S, Liao KP
Science (New York, N.Y.) · 2024 · PMID 39024449 · open access

Questions about rs9982271

What is rs9982271?

rs9982271 is a single position in the genome, in or near the LINC00323 gene. Published research associates it with essential tremor (phecode 333.1). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs9982271 linked to?

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

Does having rs9982271 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 rs9982271 come from?

GWAS Catalog, Science (New York, N.Y.) 2024, PMID:39024449. 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.

Essential tremor (PheCode 333.1) (rs9982271). MyGeneLog™. https://www.mygenelog.com/variants/rs9982271

← See all variants