SPATA5L1 c.1275+1090T>A

Variant ID: 15-45698793-T-A

NM_024063.2(SPATA5L1):c.1275+1090T>A

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

Nature Communications
Hellwege, Jacklyn N JN; Velez Edwards, Digna R DR; Giri, Ayush A; Qiu, Chengxiang C; Park, Jihwan J; Torstenson, Eric S ES; Keaton, Jacob M JM; Wilson, O D OD; Robinson-Cohen, Cassianne C; Chung, Cecilia P CP; Roumie, Christianne L CL; Klarin, Derek D; Damrauer, Scott M SM; DuVall, Scott L SL; Siew, Edward E; Akwo, Elvis A EA; Wuttke, Matthias M; Gorski, Mathias M; Li, Man M; Li, Yong Y; Gaziano, J Michael JM; Wilson, Peter W F PWF; Tsao, Philip S PS; O'Donnell, Christopher J CJ; Kovesdy, Csaba P CP; Pattaro, Cristian C; Köttgen, Anna A; Susztak, Katalin K; Edwards, Todd L TL; Hung, Adriana M AM
Publication Date: 2019-08-26

Variant appearance in text: rs2467853
PubMed Link: 31451708
Variant Present in the following documents:
  • Main text
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Genetic Predisposition for Renal Dysfunction and Incidence of CKD in the Malmö Diet and Cancer Study.

Kidney International Reports
Schulz, Christina-Alexandra CA; Engström, Gunnar G; Christensson, Anders A; Nilsson, Peter M PM; Melander, Olle O; Orho-Melander, Marju M
Publication Date: 2019-08

Variant appearance in text: rs2467853
PubMed Link: 31440704
Variant Present in the following documents:
  • Main text
  • main.pdf
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Molecular insights into genome-wide association studies of chronic kidney disease-defining traits.

Nature Communications
Xu, Xiaoguang X; Eales, James M JM; Akbarov, Artur A; Guo, Hui H; Becker, Lorenz L; Talavera, David D; Ashraf, Fehzan F; Nawaz, Jabran J; Pramanik, Sanjeev S; Bowes, John J; Jiang, Xiao X; Dormer, John J; Denniff, Matthew M; Antczak, Andrzej A; Szulinska, Monika M; Wise, Ingrid I; Prestes, Priscilla R PR; Glyda, Maciej M; Bogdanski, Pawel P; Zukowska-Szczechowska, Ewa E; Berzuini, Carlo C; Woolf, Adrian S AS; Samani, Nilesh J NJ; Charchar, Fadi J FJ; Tomaszewski, Maciej M
Publication Date: 2018-11-22

Variant appearance in text: rs2467853
PubMed Link: 30467309
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_7260.pdf
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Renal compartment-specific genetic variation analyses identify new pathways in chronic kidney disease.

Nature Medicine
Qiu, Chengxiang C; Huang, Shizheng S; Park, Jihwan J; Park, YoSon Y; Ko, Yi-An YA; Seasock, Matthew J MJ; Bryer, Joshua S JS; Xu, Xiang-Xi XX; Song, Wen-Chao WC; Palmer, Matthew M; Hill, Jon J; Guarnieri, Paolo P; Hawkins, Julie J; Boustany-Kari, Carine M CM; Pullen, Steven S SS; Brown, Christopher D CD; Susztak, Katalin K
Publication Date: 2018-11

Variant appearance in text: rs2467853
PubMed Link: 30275566
Variant Present in the following documents:
  • Main text
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Association between kidney function and genetic polymorphisms in atherosclerotic and chronic kidney diseases: A cross-sectional study in Japanese male workers.

Plos One
Kubo, Yoko Y; Imaizumi, Takahiro T; Ando, Masahiko M; Nakatochi, Masahiro M; Yasuda, Yoshinari Y; Honda, Hiroyuki H; Kuwatsuka, Yachiyo Y; Kato, Sawako S; Kikuchi, Kyoko K; Kondo, Takaaki T; Iwata, Masamitsu M; Nakashima, Toru T; Yasui, Hiroshi H; Takamatsu, Hideki H; Okajima, Hiroshi H; Yoshida, Yasuko Y; Maruyama, Shoichi S
Publication Date: 2017

Variant appearance in text: rs2467853
PubMed Link: 29016630
Variant Present in the following documents:
  • Main text
  • pone.0185476.pdf
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Genetic-Variation-Driven Gene-Expression Changes Highlight Genes with Important Functions for Kidney Disease.

American Journal Of Human Genetics
Ko, Yi-An YA; Yi, Huiguang H; Qiu, Chengxiang C; Huang, Shizheng S; Park, Jihwan J; Ledo, Nora N; Köttgen, Anna A; Li, Hongzhe H; Rader, Daniel J DJ; Pack, Michael A MA; Brown, Christopher D CD; Susztak, Katalin K
Publication Date: 2017-06-01

Variant appearance in text: rs2467853
PubMed Link: 28575649
Variant Present in the following documents:
  • Main text
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Genetic epidemiology in kidney disease.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association
Ainsworth, Hannah C HC; Langefeld, Carl D CD; Freedman, Barry I BI
Publication Date: 2017-04-01

Variant appearance in text: rs2467853
PubMed Link: 28201750
Variant Present in the following documents:
  • Main text
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A genome-wide association meta-analysis on apolipoprotein A-IV concentrations.

Human Molecular Genetics
Lamina, Claudia C; Friedel, Salome S; Coassin, Stefan S; Rueedi, Rico R; Yousri, Noha A NA; Seppälä, Ilkka I; Gieger, Christian C; Schönherr, Sebastian S; Forer, Lukas L; Erhart, Gertraud G; Kollerits, Barbara B; Marques-Vidal, Pedro P; Ried, Janina J; Waeber, Gerard G; Bergmann, Sven S; Dähnhardt, Doreen D; Stöckl, Andrea A; Kiechl, Stefan S; Raitakari, Olli T OT; Kähönen, Mika M; Willeit, Johann J; Kedenko, Ludmilla L; Paulweber, Bernhard B; Peters, Annette A; Meitinger, Thomas T; Strauch, Konstantin K; , ; Lehtimäki, Terho T; Hunt, Steven C SC; Vollenweider, Peter P; Kronenberg, Florian F
Publication Date: 2016-08-15

Variant appearance in text: rs2467853
PubMed Link: 27412012
Variant Present in the following documents:
  • supp_ddw211_GWA_apoA4_Supplement_Final.pdf
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Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

Nature Communications
Pattaro, Cristian C; Teumer, Alexander A; Gorski, Mathias M; Chu, Audrey Y AY; Li, Man M; Mijatovic, Vladan V; Garnaas, Maija M; Tin, Adrienne A; Sorice, Rossella R; Li, Yong Y; Taliun, Daniel D; Olden, Matthias M; Foster, Meredith M; Yang, Qiong Q; Chen, Ming-Huei MH; Pers, Tune H TH; Johnson, Andrew D AD; Ko, Yi-An YA; Fuchsberger, Christian C; Tayo, Bamidele B; Nalls, Michael M; Feitosa, Mary F MF; Isaacs, Aaron A; Dehghan, Abbas A; d'Adamo, Pio P; Adeyemo, Adebowale A; Dieffenbach, Aida Karina AK; Zonderman, Alan B AB; Nolte, Ilja M IM; van der Most, Peter J PJ; Wright, Alan F AF; Shuldiner, Alan R AR; Morrison, Alanna C AC; Hofman, Albert A; Smith, Albert V AV; Dreisbach, Albert W AW; Franke, Andre A; Uitterlinden, Andre G AG; Metspalu, Andres A; Tonjes, Anke A; Lupo, Antonio A; Robino, Antonietta A; Johansson, Åsa Å; Demirkan, Ayse A; Kollerits, Barbara B; Freedman, Barry I BI; Ponte, Belen B; Oostra, Ben A BA; Paulweber, Bernhard B; Krämer, Bernhard K BK; Mitchell, Braxton D BD; Buckley, Brendan M BM; Peralta, Carmen A CA; Hayward, Caroline C; Helmer, Catherine C; Rotimi, Charles N CN; Shaffer, Christian M CM; Müller, Christian C; Sala, Cinzia C; van Duijn, Cornelia M CM; Saint-Pierre, Aude A; Ackermann, Daniel D; Shriner, Daniel D; Ruggiero, Daniela D; Toniolo, Daniela D; Lu, Yingchang Y; Cusi, Daniele D; Czamara, Darina D; Ellinghaus, David D; Siscovick, David S DS; Ruderfer, Douglas D; Gieger, Christian C; Grallert, Harald H; Rochtchina, Elena E; Atkinson, Elizabeth J EJ; Holliday, Elizabeth G EG; Boerwinkle, Eric E; Salvi, Erika E; Bottinger, Erwin P EP; Murgia, Federico F; Rivadeneira, Fernando F; Ernst, Florian F; Kronenberg, Florian F; Hu, Frank B FB; Navis, Gerjan J GJ; Curhan, Gary C GC; Ehret, George B GB; Homuth, Georg G; Coassin, Stefan S; Thun, Gian-Andri GA; Pistis, Giorgio G; Gambaro, Giovanni G; Malerba, Giovanni G; Montgomery, Grant W GW; Eiriksdottir, Gudny G; Jacobs, Gunnar G; Li, Guo G; Wichmann, H-Erich HE; Campbell, Harry H; Schmidt, Helena H; Wallaschofski, Henri H; Völzke, Henry H; Brenner, Hermann H; Kroemer, Heyo K HK; Kramer, Holly H; Lin, Honghuang H; Leach, I Mateo IM; Ford, Ian I; Guessous, Idris I; Rudan, Igor I; Prokopenko, Inga I; Borecki, Ingrid I; Heid, Iris M IM; Kolcic, Ivana I; Persico, Ivana I; Jukema, J Wouter JW; Wilson, James F JF; Felix, Janine F JF; Divers, Jasmin J; Lambert, Jean-Charles JC; Stafford, Jeanette M JM; Gaspoz, Jean-Michel JM; Smith, Jennifer A JA; Faul, Jessica D JD; Wang, Jie Jin JJ; Ding, Jingzhong J; Hirschhorn, Joel N JN; Attia, John J; Whitfield, John B JB; Chalmers, John J; Viikari, Jorma J; Coresh, Josef J; Denny, Joshua C JC; Karjalainen, Juha J; Fernandes, Jyotika K JK; Endlich, Karlhans K; Butterbach, Katja K; Keene, Keith L KL; Lohman, Kurt K; Portas, Laura L; Launer, Lenore J LJ; Lyytikäinen, Leo-Pekka LP; Yengo, Loic L; Franke, Lude L; Ferrucci, Luigi L; Rose, Lynda M LM; Kedenko, Lyudmyla L; Rao, Madhumathi M; Struchalin, Maksim M; Kleber, Marcus E ME; Cavalieri, Margherita M; Haun, Margot M; Cornelis, Marilyn C MC; Ciullo, Marina M; Pirastu, Mario M; de Andrade, Mariza M; McEvoy, Mark A MA; Woodward, Mark M; Adam, Martin M; Cocca, Massimiliano M; Nauck, Matthias M; Imboden, Medea M; Waldenberger, Melanie M; Pruijm, Menno M; Metzger, Marie M; Stumvoll, Michael M; Evans, Michele K MK; Sale, Michele M MM; Kähönen, Mika M; Boban, Mladen M; Bochud, Murielle M; Rheinberger, Myriam M; Verweij, Niek N; Bouatia-Naji, Nabila N; Martin, Nicholas G NG; Hastie, Nick N; Probst-Hensch, Nicole N; Soranzo, Nicole N; Devuyst, Olivier O; Raitakari, Olli O; Gottesman, Omri O; Franco, Oscar H OH; Polasek, Ozren O; Gasparini, Paolo P; Munroe, Patricia B PB; Ridker, Paul M PM; Mitchell, Paul P; Muntner, Paul P; Meisinger, Christa C; Smit, Johannes H JH; , ; , ; , ; , ; , ; Kovacs, Peter P; Wild, Philipp S PS; Froguel, Philippe P; Rettig, Rainer R; Mägi, Reedik R; Biffar, Reiner R; Schmidt, Reinhold R; Middelberg, Rita P S RP; Carroll, Robert J RJ; Penninx, Brenda W BW; Scott, Rodney J RJ; Katz, Ronit R; Sedaghat, Sanaz S; Wild, Sarah H SH; Kardia, Sharon L R SL; Ulivi, Sheila S; Hwang, Shih-Jen SJ; Enroth, Stefan S; Kloiber, Stefan S; Trompet, Stella S; Stengel, Benedicte B; Hancock, Stephen J SJ; Turner, Stephen T ST; Rosas, Sylvia E SE; Stracke, Sylvia S; Harris, Tamara B TB; Zeller, Tanja T; Zemunik, Tatijana T; Lehtimäki, Terho T; Illig, Thomas T; Aspelund, Thor T; Nikopensius, Tiit T; Esko, Tonu T; Tanaka, Toshiko T; Gyllensten, Ulf U; Völker, Uwe U; Emilsson, Valur V; Vitart, Veronique V; Aalto, Ville V; Gudnason, Vilmundur V; Chouraki, Vincent V; Chen, Wei-Min WM; Igl, Wilmar W; März, Winfried W; Koenig, Wolfgang W; Lieb, Wolfgang W; Loos, Ruth J F RJ; Liu, Yongmei Y; Snieder, Harold H; Pramstaller, Peter P PP; Parsa, Afshin A; O'Connell, Jeffrey R JR; Susztak, Katalin K; Hamet, Pavel P; Tremblay, Johanne J; de Boer, Ian H IH; Böger, Carsten A CA; Goessling, Wolfram W; Chasman, Daniel I DI; Köttgen, Anna A; Kao, W H Linda WH; Fox, Caroline S CS
Publication Date: 2016-01-21

Variant appearance in text: rs2467853
PubMed Link: 26831199
Variant Present in the following documents:
  • ncomms10023-s1.pdf
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KIDNEY DISEASE GENETICS AND THE IMPORTANCE OF DIVERSITY IN PRECISION MEDICINE.

Pacific Symposium On Biocomputing. Pacific Symposium On Biocomputing
Cooke Bailey, Jessica N JN; Wilson, Sarah S; Brown-Gentry, Kristin K; Goodloe, Robert R; Crawford, Dana C DC
Publication Date: 2016

Variant appearance in text: rs2467853
PubMed Link: 26776194
Variant Present in the following documents:
  • Main text
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Prevalence of CKD and its relationship to eGFR-related genetic loci and clinical risk factors in the SardiNIA study cohort.

Journal Of The American Society Of Nephrology : Jasn
Pani, Antonello A; Bragg-Gresham, Jennifer J; Masala, Marco M; Piras, Doloretta D; Atzeni, Alice A; Pilia, Maria G MG; Ferreli, Liana L; Balaci, Lenuta L; Curreli, Nicolò N; Delitala, Alessandro A; Loi, Francesco F; Abecasis, Gonçalo R GR; Schlessinger, David D; Cucca, Francesco F
Publication Date: 2014-07

Variant appearance in text: rs2467853
PubMed Link: 24511125
Variant Present in the following documents:
  • Main text
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Multiple loci associated with renal function in African Americans.

Plos One
Shriner, Daniel D; Herbert, Alan A; Doumatey, Ayo P AP; Zhou, Jie J; Huang, Hanxia H; Erdos, Michael R MR; Chen, Guanjie G; Gerry, Norman P NP; Christman, Michael F MF; Adeyemo, Adebowale A; Rotimi, Charles N CN
Publication Date: 2012

Variant appearance in text: rs2467853
PubMed Link: 23028791
Variant Present in the following documents:
  • Main text
  • pone.0045112.pdf
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Association of variants at UMOD with chronic kidney disease and kidney stones-role of age and comorbid diseases.

Plos Genetics
Gudbjartsson, Daniel F DF; Holm, Hilma H; Indridason, Olafur S OS; Thorleifsson, Gudmar G; Edvardsson, Vidar V; Sulem, Patrick P; de Vegt, Femmie F; d'Ancona, Frank C H FC; den Heijer, Martin M; Wetzels, Jack F M JF; Franzson, Leifur L; Rafnar, Thorunn T; Kristjansson, Kristleifur K; Bjornsdottir, Unnur S US; Eyjolfsson, Gudmundur I GI; Kiemeney, Lambertus A LA; Kong, Augustine A; Palsson, Runolfur R; Thorsteinsdottir, Unnur U; Stefansson, Kari K
Publication Date: 2010-07-29

Variant appearance in text: rs2467853
PubMed Link: 20686651
Variant Present in the following documents:
  • Main text
  • pgen.1001039.pdf
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Genetic loci influencing kidney function and chronic kidney disease.

Nature Genetics
Chambers, John C JC; Zhang, Weihua W; Lord, Graham M GM; van der Harst, Pim P; Lawlor, Debbie A DA; Sehmi, Joban S JS; Gale, Daniel P DP; Wass, Mark N MN; Ahmadi, Kourosh R KR; Bakker, Stephan J L SJ; Beckmann, Jacqui J; Bilo, Henk J G HJ; Bochud, Murielle M; Brown, Morris J MJ; Caulfield, Mark J MJ; Connell, John M C JM; Cook, H Terence HT; Cotlarciuc, Ioana I; Davey Smith, George G; de Silva, Ranil R; Deng, Guohong G; Devuyst, Olivier O; Dikkeschei, Lambert D LD; Dimkovic, Nada N; Dockrell, Mark M; Dominiczak, Anna A; Ebrahim, Shah S; Eggermann, Thomas T; Farrall, Martin M; Ferrucci, Luigi L; Floege, Jurgen J; Forouhi, Nita G NG; Gansevoort, Ron T RT; Han, Xijin X; Hedblad, Bo B; Homan van der Heide, Jaap J JJ; Hepkema, Bouke G BG; Hernandez-Fuentes, Maria M; Hypponen, Elina E; Johnson, Toby T; de Jong, Paul E PE; Kleefstra, Nanne N; Lagou, Vasiliki V; Lapsley, Marta M; Li, Yun Y; Loos, Ruth J F RJ; Luan, Jian'an J; Luttropp, Karin K; Maréchal, Céline C; Melander, Olle O; Munroe, Patricia B PB; Nordfors, Louise L; Parsa, Afshin A; Peltonen, Leena L; Penninx, Brenda W BW; Perucha, Esperanza E; Pouta, Anneli A; Prokopenko, Inga I; Roderick, Paul J PJ; Ruokonen, Aimo A; Samani, Nilesh J NJ; Sanna, Serena S; Schalling, Martin M; Schlessinger, David D; Schlieper, Georg G; Seelen, Marc A J MA; Shuldiner, Alan R AR; Sjögren, Marketa M; Smit, Johannes H JH; Snieder, Harold H; Soranzo, Nicole N; Spector, Timothy D TD; Stenvinkel, Peter P; Sternberg, Michael J E MJ; Swaminathan, Ramasamyiyer R; Tanaka, Toshiko T; Ubink-Veltmaat, Lielith J LJ; Uda, Manuela M; Vollenweider, Peter P; Wallace, Chris C; Waterworth, Dawn D; Zerres, Klaus K; Waeber, Gerard G; Wareham, Nicholas J NJ; Maxwell, Patrick H PH; McCarthy, Mark I MI; Jarvelin, Marjo-Riitta MR; Mooser, Vincent V; Abecasis, Goncalo R GR; Lightstone, Liz L; Scott, James J; Navis, Gerjan G; Elliott, Paul P; Kooner, Jaspal S JS
Publication Date: 2010-05

Variant appearance in text: rs2467853
PubMed Link: 20383145
Variant Present in the following documents:
  • Main text
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A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level.

Bmc Medical Genetics
Pattaro, Cristian C; De Grandi, Alessandro A; Vitart, Veronique V; Hayward, Caroline C; Franke, Andre A; Aulchenko, Yurii S YS; Johansson, Asa A; Wild, Sarah H SH; Melville, Scott A SA; Isaacs, Aaron A; Polasek, Ozren O; Ellinghaus, David D; Kolcic, Ivana I; Nöthlings, Ute U; Zgaga, Lina L; Zemunik, Tatijana T; Gnewuch, Carsten C; Schreiber, Stefan S; Campbell, Susan S; Hastie, Nick N; Boban, Mladen M; Meitinger, Thomas T; Oostra, Ben A BA; Riegler, Peter P; Minelli, Cosetta C; Wright, Alan F AF; Campbell, Harry H; van Duijn, Cornelia M CM; Gyllensten, Ulf U; Wilson, James F JF; Krawczak, Michael M; Rudan, Igor I; Pramstaller, Peter P PP; ,
Publication Date: 2010-03-11

Variant appearance in text: rs2467853
PubMed Link: 20222955
Variant Present in the following documents:
  • Main text
  • 1471-2350-11-41.pdf
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Multiple loci associated with indices of renal function and chronic kidney disease.

Nature Genetics
Köttgen, Anna A; Glazer, Nicole L NL; Dehghan, Abbas A; Hwang, Shih-Jen SJ; Katz, Ronit R; Li, Man M; Yang, Qiong Q; Gudnason, Vilmundur V; Launer, Lenore J LJ; Harris, Tamara B TB; Smith, Albert V AV; Arking, Dan E DE; Astor, Brad C BC; Boerwinkle, Eric E; Ehret, Georg B GB; Ruczinski, Ingo I; Scharpf, Robert B RB; Chen, Yii-Der Ida YD; de Boer, Ian H IH; Haritunians, Talin T; Lumley, Thomas T; Sarnak, Mark M; Siscovick, David D; Benjamin, Emelia J EJ; Levy, Daniel D; Upadhyay, Ashish A; Aulchenko, Yurii S YS; Hofman, Albert A; Rivadeneira, Fernando F; Uitterlinden, André G AG; van Duijn, Cornelia M CM; Chasman, Daniel I DI; Paré, Guillaume G; Ridker, Paul M PM; Kao, W H Linda WH; Witteman, Jacqueline C JC; Coresh, Josef J; Shlipak, Michael G MG; Fox, Caroline S CS
Publication Date: 2009-06

Variant appearance in text: rs2467853
PubMed Link: 19430482
Variant Present in the following documents:
  • Main text
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