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Osteoporosis (PheCode 743.1)

SEM1 · rs6960700

Where this position leads

Condition: Osteoporosis

rs6960700 Condition: Osteoporosis Osteoporosis Condition rs6960700 rs6960700 SEM1

What the study found

Who was studied 2,530 African American or Afro-Caribbean cases, 117,758 African American or Afro-Caribbean controls, 20,117 European ancestry cases, 422,420 European ancestry controls, 1,580 Hispanic or Latin American cases, 57,521 Hispanic or Latin American controls.

The effect Each copy of the T allele shifted the measure 0.0834 higher (95% confidence interval 0.061-0.106); p = 3 × 10−15.

How common The T allele had a frequency of about 32% in the people studied.

Where it sits Chromosome 7, band 7q21.3 — inside SEM1.

What each result means

C/C Published research associates this genotype with typical/baseline likelihood of Osteoporosis (PheCode 743.1) — no copies of the reported risk allele.
C/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Osteoporosis (PheCode 743.1).
T/T Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Osteoporosis (PheCode 743.1) compared to the general population.
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 rs6960700

What is rs6960700?

rs6960700 is a single position in the genome, in or near the SEM1 gene. Published research associates it with osteoporosis (phecode 743.1). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs6960700 linked to?

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

Does having rs6960700 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 rs6960700 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.

Osteoporosis (PheCode 743.1) (rs6960700). MyGeneLog™. https://www.mygenelog.com/variants/rs6960700

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