Standard

Heart failure

SMG6 · rs1002135

Where this position leads

What the study found

Who was studied 139,533 European ancestry cases, 1,568,809 European ancestry controls, 9,413 East Asian ancestry cases, 203,040 East Asian ancestry controls, 3,292 African ancestry cases, 13,574 African ancestry controls, 779 South Asian ancestry cases, 28,150 South Asian ancestry controls, 157 Admixed American ancestry cases, 2,059 Admixed American ancestry controls.

The effect Each copy of the G allele shifted the measure 0.0268 higher (95% confidence interval 0.018-0.036); p = 4 × 10⁻⁹.

How common The G allele had a frequency of about 38% in the people studied.

Where it sits Chromosome 17, band 17p13.3 — in an intron of SMG6.

What each result means

G/G Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Heart failure compared to the general population.

G/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Heart failure.

T/T Published research associates this genotype with typical/baseline likelihood of Heart failure — no copies of the reported risk allele.

Source

Genome-wide association study meta-analysis provides insights into the etiology of heart failure and its subtypes

Henry A, Mo X, Finan C, Chaffin MD, Speed D, Issa H, Denaxas S, Ware JS, Zheng SL, Malarstig A, Gratton J, Bond I

and 169 more — show all

Roselli C, Miller D, Chopade S, Schmidt AF, Abner E, Adams L, Andersson C, Aragam KG, Ärnlöv J, Asselin G, Raja AA, Backman JD, Bartz TM, Biddinger KJ, Biggs ML, Bloom HL, Boersma E, Brandimarto J, Brown MR, Brunak S, Bruun MT, Buckbinder L, Bundgaard H, Carey DJ, Chasman DI, Chen X, Cook JP, Czuba T, de Denus S, Dehghan A, Delgado GE, Doney AS, Dörr M, Dowsett J, Dudley SC, Engström G, Erikstrup C, Esko T, Farber-Eger EH, Felix SB, Finer S, Ford I, Ghanbari M, Ghasemi S, Ghouse J, Giedraitis V, Giulianini F, Gottdiener JS, Gross S, Guðbjartsson DF, Gui H, Gutmann R, Hägg S, Haggerty CM, Hedman ÅK, Helgadottir A, Hemingway H, Hillege H, Hyde CL, Aagaard Jensen B, Jukema JW, Kardys I, Karra R, Kavousi M, Kizer JR, Kleber ME, Køber L, Koekemoer A, Kuchenbaecker K, Lai YP, Lanfear D, Langenberg C, Lin H, Lind L, Lindgren CM, Liu PP, London B, Lowery BD, Luan J, Lubitz SA, Magnusson P, Margulies KB, Marston NA, Martin H, März W, Melander O, Mordi IR, Morley MP, Morris AP, Morrison AC, Morton L, Nagle MW, Nelson CP, Niessner A, Niiranen T, Noordam R, Nowak C, O'Donoghue ML, Ostrowski SR, Owens AT, Palmer CNA, Paré G, Pedersen OB, Perola M, Pigeyre M, Psaty BM, Rice KM, Ridker PM, Romaine SPR, Rotter JI, Ruff CT, Sabatine MS, Sallah N, Salomaa V, Sattar N, Shalaby AA, Shekhar A, Smelser DT, Smith NL, Sørensen E, Srinivasan S, Stefansson K, Sveinbjörnsson G, Svensson P, Tammesoo ML, Tardif JC, Teder-Laving M, Teumer A, Thorgeirsson G, Thorsteinsdottir U, Torp-Pedersen C, Tragante V, Trompet S, Uitterlinden AG, Ullum H, van der Harst P, van Heel D, van Setten J, van Vugt M, Veluchamy A, Verschuuren M, Verweij N, Vissing CR, Völker U, Voors AA, Wallentin L, Wang Y, Weeke PE, Wiggins KL, Williams LK, Yang Y, Yu B, Zannad F, Zheng C, Asselbergs FW, Cappola TP, Dubé MP, Dunn ME, Lang CC, Samani NJ, Shah S, Vasan RS, Smith JG, Holm H, Shah S, Ellinor PT, Hingorani AD, Wells Q, Lumbers RT

Genes & Health Research Team · Estonian Biobank Research Team · DBDS Genomic Consortium · HERMES Consortium

Nature genetics · 2025 · PMID 40038546 · open access

Questions about rs1002135

What is rs1002135?

rs1002135 is a single position in the genome, in or near the SMG6 gene. Published research associates it with heart failure. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs1002135 linked to?

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

Does having rs1002135 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 rs1002135 come from?

GWAS Catalog, Nature genetics 2025, PMID:40038546. 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.

Heart failure (rs1002135). MyGeneLog™. https://www.mygenelog.com/variants/rs1002135

← See all variants