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Deep white matter hyperintensities

EVPL · rs2598420

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

What the study found

Who was studied 16,832 European ancestry individuals, 736 African American individuals, 658 Hispanic individuals; replicated in 8,428 European and unknown ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.0449 lower (95% confidence interval 0.033-0.056); p = 2 × 10⁻¹⁴.

How common The C allele had a frequency of about 40% in the people studied.

Where it sits Chromosome 17, band 17q25.1 — in an intron of EVPL.

What each result means

C/C Two copies of the version the research linked to Deep white matter hyperintensities. That is the strongest link of the three results. A link in a study is not a diagnosis.

C/G One copy of the version the research linked to Deep white matter hyperintensities. That is a smaller link than two copies.

G/G No copy of the version the research linked to Deep white matter hyperintensities. This is the starting point the study compared everyone against.

Source

Common Genetic Variation Indicates Separate Causes for Periventricular and Deep White Matter Hyperintensities

Armstrong NJ, Mather KA, Sargurupremraj M, Knol MJ, Malik R, Satizabal CL, Yanek LR, Wen W, Gudnason VG, Dueker ND, Elliott LT, Hofer E

and 74 more — show all

Bis J, Jahanshad N, Li S, Logue MA, Luciano M, Scholz M, Smith AV, Trompet S, Vojinovic D, Xia R, Alfaro-Almagro F, Ames D, Amin N, Amouyel P, Beiser AS, Brodaty H, Deary IJ, Fennema-Notestine C, Gampawar PG, Gottesman R, Griffanti L, Jack CR Jr, Jenkinson M, Jiang J, Kral BG, Kwok JB, Lampe L, C M Liewald D, Maillard P, Marchini J, Bastin ME, Mazoyer B, Pirpamer L, Rafael Romero J, Roshchupkin GV, Schofield PR, Schroeter ML, Stott DJ, Thalamuthu A, Trollor J, Tzourio C, van der Grond J, Vernooij MW, Witte VA, Wright MJ, Yang Q, Morris Z, Siggurdsson S, Psaty B, Villringer A, Schmidt H, Haberg AK, van Duijn CM, Jukema JW, Dichgans M, Sacco RL, Wright CB, Kremen WS, Becker LC, Thompson PM, Mosley TH, Wardlaw JM, Ikram MA, Adams HHH, Seshadri S, Sachdev PS, Smith SM, Launer L, Longstreth W, DeCarli C, Schmidt R, Fornage M, Debette S, Nyquist PA

Stroke · 2020 · PMID 32517579

Questions about rs2598420

What is rs2598420?

rs2598420 is a single position in the genome, in or near the EVPL gene. Published research associates it with deep white matter hyperintensities. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs2598420 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 rs2598420 come from?

GWAS Catalog, Stroke 2020, PMID:32517579. 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.

Deep white matter hyperintensities (rs2598420). MyGeneLog™. https://www.mygenelog.com/variants/rs2598420

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