Standard

Spherical equivalent

near EFEMP1 · rs41393947

Where this position leads

Condition: Myopia

What the study found

Who was studied 41,073 European ancestry individuals, 2,610 Erasmus Rucphen (founder/genetic isolate) individuals, 509 Talana (founder/genetic isolate) individuals, 15,044 East Asian ancestry individuals, 2,275 Malay ancestry individuals, 2,110 Indian ancestry individuals, 2,506 Asian ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.131 lower (95% confidence interval 0.087-0.175); p = 5 × 10⁻⁹.

How common The A allele had a frequency of about 13% in the people studied.

Where it sits Chromosome 2, band 2p16.1 — between genes, 11 kb from LOC107985811.

What each result means

A/A Two copies of the version the research linked to Spherical equivalent. 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 Spherical equivalent. That is a smaller link than two copies.

G/G No copy of the version the research linked to Spherical equivalent. This is the starting point the study compared everyone against.

Source

Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error

Tedja MS, Wojciechowski R, Hysi PG, Eriksson N, Furlotte NA, Verhoeven VJM, Iglesias AI, Meester-Smoor MA, Tompson SW, Fan Q, Khawaja AP, Cheng CY

and 86 more — show all

Höhn R, Yamashiro K, Wenocur A, Grazal C, Haller T, Metspalu A, Wedenoja J, Jonas JB, Wang YX, Xie J, Mitchell P, Foster PJ, Klein BEK, Klein R, Paterson AD, Hosseini SM, Shah RL, Williams C, Teo YY, Tham YC, Gupta P, Zhao W, Shi Y, Saw WY, Tai ES, Sim XL, Huffman JE, Polašek O, Hayward C, Bencic G, Rudan I, Wilson JF, Joshi PK, Tsujikawa A, Matsuda F, Whisenhunt KN, Zeller T, van der Spek PJ, Haak R, Meijers-Heijboer H, van Leeuwen EM, Iyengar SK, Lass JH, Hofman A, Rivadeneira F, Uitterlinden AG, Vingerling JR, Lehtimäki T, Raitakari OT, Biino G, Concas MP, Schwantes-An TH, Igo RP Jr, Cuellar-Partida G, Martin NG, Craig JE, Gharahkhani P, Williams KM, Nag A, Rahi JS, Cumberland PM, Delcourt C, Bellenguez C, Ried JS, Bergen AA, Meitinger T, Gieger C, Wong TY, Hewitt AW, Mackey DA, Simpson CL, Pfeiffer N, Pärssinen O, Baird PN, Vitart V, Amin N, van Duijn CM, Bailey-Wilson JE, Young TL, Saw SM, Stambolian D, MacGregor S, Guggenheim JA, Tung JY, Hammond CJ, Klaver CCW

CREAM Consortium · 23andMe Research Team · UK Biobank Eye and Vision Consortium

Nature genetics · 2018 · PMID 29808027 · open access

Questions about rs41393947

What is rs41393947?

rs41393947 is a single position in the genome, in or near the near EFEMP1 gene. Published research associates it with spherical equivalent. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs41393947 linked to?

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

Does having rs41393947 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 rs41393947 come from?

GWAS Catalog, Nat Genet 2018, PMID:29808027. 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.

Spherical equivalent (rs41393947). MyGeneLog™. https://www.mygenelog.com/variants/rs41393947

← See all variants