Standard

Body mass index

near PAX3 · rs994108

Where this position leads

What the study found

Who was studied 56,161 Hispanic or Latin American individuals; replicated in 10,538 Hispanic or Latin American individuals.

The effect Each copy of the C allele shifted the measure 0.038 higher (95% confidence interval 0.026-0.05); p = 2 × 10⁻⁹.

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

Where it sits Chromosome 2, band 2q36.1 — between genes, 7.3 kb from PAX3.

What each result means

A/A No copy of the version the research linked to Body mass index. This is the starting point the study compared everyone against.

A/C One copy of the version the research linked to Body mass index. That is a smaller link than two copies.

C/C Two copies of the version the research linked to Body mass index. That is the strongest link of the three results. A link in a study is not a diagnosis.

Source

Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits-The Hispanic/Latino Anthropometry Consortium

Fernández-Rhodes L, Graff M, Buchanan VL, Justice AE, Highland HM, Guo X, Zhu W, Chen HH, Young KL, Adhikari K, Palmer ND, Below JE

and 104 more — show all

Bradfield J, Pereira AC, Glover L, Kim D, Lilly AG, Shrestha P, Thomas AG, Zhang X, Chen M, Chiang CWK, Pulit S, Horimoto A, Krieger JE, Guindo-Martínez M, Preuss M, Schumann C, Smit RAJ, Torres-Mejía G, Acuña-Alonzo V, Bedoya G, Bortolini MC, Canizales-Quinteros S, Gallo C, González-José R, Poletti G, Rothhammer F, Hakonarson H, Igo R, Adler SG, Iyengar SK, Nicholas SB, Gogarten SM, Isasi CR, Papnicolaou G, Stilp AM, Qi Q, Kho M, Smith JA, Langefeld CD, Wagenknecht L, Mckean-Cowdin R, Gao XR, Nousome D, Conti DV, Feng Y, Allison MA, Arzumanyan Z, Buchanan TA, Ida Chen YD, Genter PM, Goodarzi MO, Hai Y, Hsueh W, Ipp E, Kandeel FR, Lam K, Li X, Nadler JL, Raffel LJ, Roll K, Sandow K, Tan J, Taylor KD, Xiang AH, Yao J, Audirac-Chalifour A, de Jesus Peralta Romero J, Hartwig F, Horta B, Blangero J, Curran JE, Duggirala R, Lehman DE, Puppala S, Fejerman L, John EM, Aguilar-Salinas C, Burtt NP, Florez JC, García-Ortíz H, González-Villalpando C, Mercader J, Orozco L, Tusié-Luna T, Blanco E, Gahagan S, Cox NJ, Hanis C, Butte NF, Cole SA, Comuzzie AG, Voruganti VS, Rohde R, Wang Y, Sofer T, Ziv E, Grant SFA, Ruiz-Linares A, Rotter JI, Haiman CA, Parra EJ, Cruz M, Loos RJF, North KE

HGG advances · 2022 · PMID 35399580 · open access

Questions about rs994108

What is rs994108?

rs994108 is a single position in the genome, in or near the near PAX3 gene. Published research associates it with body mass index. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs994108 linked to?

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

Does having rs994108 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 rs994108 come from?

GWAS Catalog, HGG advances 2022, PMID:35399580. 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.

Body mass index (rs994108). MyGeneLog™. https://www.mygenelog.com/variants/rs994108

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