SLC7A9 c.88-1209A>G

Variant ID: 19-33356891-T-C

NM_014270.4(SLC7A9):c.88-1209A>G

This variant was identified in 27 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs12460876
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Polygenic risk scores predict diabetes complications and their response to intensive blood pressure and glucose control.

Diabetologia
Tremblay, Johanne J; Haloui, Mounsif M; Attaoua, Redha R; Tahir, Ramzan R; Hishmih, Camil C; Harvey, François F; Marois-Blanchet, François-Christophe FC; Long, Carole C; Simon, Paul P; Santucci, Lara L; Hizel, Candan C; Chalmers, John J; Marre, Michel M; Harrap, Stephen S; Cífková, Renata R; Krajčoviechová, Alena A; Matthews, David R DR; Williams, Bryan B; Poulter, Neil N; Zoungas, Sophia S; Colagiuri, Stephen S; Mancia, Giuseppe G; Grobbee, Diederick E DE; Rodgers, Anthony A; Liu, Liusheng L; Agbessi, Mawussé M; Bruat, Vanessa V; Favé, Marie-Julie MJ; Harwood, Michelle P MP; Awadalla, Philip P; Woodward, Mark M; Hussin, Julie G JG; Hamet, Pavel P
Publication Date: 2021-09

Variant appearance in text: rs12460876
PubMed Link: 34226943
Variant Present in the following documents:
  • 125_2021_5491_MOESM1_ESM.pdf
View BVdb publication page



Rare genetic variants affecting urine metabolite levels link population variation to inborn errors of metabolism.

Nature Communications
Cheng, Yurong Y; Schlosser, Pascal P; Hertel, Johannes J; Sekula, Peggy P; Oefner, Peter J PJ; Spiekerkoetter, Ute U; Mielke, Johanna J; Freitag, Daniel F DF; Schmidts, Miriam M; , ; Kronenberg, Florian F; Eckardt, Kai-Uwe KU; Thiele, Ines I; Li, Yong Y; Köttgen, Anna A
Publication Date: 2021-02-11

Variant appearance in text: rs12460876
PubMed Link: 33574263
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_20877.pdf
View BVdb publication page



Genetic studies of urinary metabolites illuminate mechanisms of detoxification and excretion in humans.

Nature Genetics
Schlosser, Pascal P; Li, Yong Y; Sekula, Peggy P; Raffler, Johannes J; Grundner-Culemann, Franziska F; Pietzner, Maik M; Cheng, Yurong Y; Wuttke, Matthias M; Steinbrenner, Inga I; Schultheiss, Ulla T UT; Kotsis, Fruzsina F; Kacprowski, Tim T; Forer, Lukas L; Hausknecht, Birgit B; Ekici, Arif B AB; Nauck, Matthias M; Völker, Uwe U; , ; Walz, Gerd G; Oefner, Peter J PJ; Kronenberg, Florian F; Mohney, Robert P RP; Köttgen, Michael M; Suhre, Karsten K; Eckardt, Kai-Uwe KU; Kastenmüller, Gabi G; Köttgen, Anna A
Publication Date: 2020-02

Variant appearance in text: rs12460876
PubMed Link: 31959995
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Variants Associated with Chronic Kidney Disease in a Spanish Population.

Scientific Reports
Corredor, Zuray Z; Filho, Miguel Inácio da Silva MIDS; Rodríguez-Ribera, Lara L; Velázquez, Antonia A; Hernández, Alba A; Catalano, Calogerina C; Hemminki, Kari K; Coll, Elisabeth E; Silva, Irene I; Diaz, Juan Manuel JM; Ballarin, José J; Vallés Prats, Martí M; Calabia Martínez, Jordi J; Försti, Asta A; Marcos, Ricard R; Pastor, Susana S
Publication Date: 2020-01-10

Variant appearance in text: rs12460876
PubMed Link: 31924810
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_56695.pdf
View BVdb publication page



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: rs12460876
PubMed Link: 31440704
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



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: rs12460876
PubMed Link: 30467309
Variant Present in the following documents:
  • 41467_2018_Article_7260.pdf
View BVdb publication page



Genomic approaches in the search for molecular biomarkers in chronic kidney disease.

Journal Of Translational Medicine
Cañadas-Garre, M M; Anderson, K K; McGoldrick, J J; Maxwell, A P AP; McKnight, A J AJ
Publication Date: 2018-10-25

Variant appearance in text: rs12460876
PubMed Link: 30359254
Variant Present in the following documents:
  • Main text
  • 12967_2018_Article_1664.pdf
View BVdb publication page



Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms.

Journal Of The American Society Of Nephrology : Jasn
Li, Yong Y; Sekula, Peggy P; Wuttke, Matthias M; Wahrheit, Judith J; Hausknecht, Birgit B; Schultheiss, Ulla T UT; Gronwald, Wolfram W; Schlosser, Pascal P; Tucci, Sara S; Ekici, Arif B AB; Spiekerkoetter, Ute U; Kronenberg, Florian F; Eckardt, Kai-Uwe KU; Oefner, Peter J PJ; Köttgen, Anna A; ,
Publication Date: 2018-05

Variant appearance in text: rs12460876
PubMed Link: 29545352
Variant Present in the following documents:
  • Main text
View BVdb publication page



1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.

Scientific Reports
Gorski, Mathias M; van der Most, Peter J PJ; Teumer, Alexander A; Chu, Audrey Y AY; Li, Man M; Mijatovic, Vladan V; Nolte, Ilja M IM; Cocca, Massimiliano M; Taliun, Daniel D; Gomez, Felicia F; Li, Yong Y; Tayo, Bamidele B; Tin, Adrienne A; Feitosa, Mary F MF; Aspelund, Thor T; Attia, John J; Biffar, Reiner R; Bochud, Murielle M; Boerwinkle, Eric E; Borecki, Ingrid I; Bottinger, Erwin P EP; Chen, Ming-Huei MH; Chouraki, Vincent V; Ciullo, Marina M; Coresh, Josef J; Cornelis, Marilyn C MC; Curhan, Gary C GC; d'Adamo, Adamo Pio AP; Dehghan, Abbas A; Dengler, Laura L; Ding, Jingzhong J; Eiriksdottir, Gudny G; Endlich, Karlhans K; Enroth, Stefan S; Esko, Tõnu T; Franco, Oscar H OH; Gasparini, Paolo P; Gieger, Christian C; Girotto, Giorgia G; Gottesman, Omri O; Gudnason, Vilmundur V; Gyllensten, Ulf U; Hancock, Stephen J SJ; Harris, Tamara B TB; Helmer, Catherine C; Höllerer, Simon S; Hofer, Edith E; Hofman, Albert A; Holliday, Elizabeth G EG; Homuth, Georg G; Hu, Frank B FB; Huth, Cornelia C; Hutri-Kähönen, Nina N; Hwang, Shih-Jen SJ; Imboden, Medea M; Johansson, Åsa Å; Kähönen, Mika M; König, Wolfgang W; Kramer, Holly H; Krämer, Bernhard K BK; Kumar, Ashish A; Kutalik, Zoltan Z; Lambert, Jean-Charles JC; Launer, Lenore J LJ; Lehtimäki, Terho T; de Borst, Martin M; Navis, Gerjan G; Swertz, Morris M; Liu, Yongmei Y; Lohman, Kurt K; Loos, Ruth J F RJF; Lu, Yingchang Y; Lyytikäinen, Leo-Pekka LP; McEvoy, Mark A MA; Meisinger, Christa C; Meitinger, Thomas T; Metspalu, Andres A; Metzger, Marie M; Mihailov, Evelin E; Mitchell, Paul P; Nauck, Matthias M; Oldehinkel, Albertine J AJ; Olden, Matthias M; Wjh Penninx, Brenda B; Pistis, Giorgio G; Pramstaller, Peter P PP; Probst-Hensch, Nicole N; Raitakari, Olli T OT; Rettig, Rainer R; Ridker, Paul M PM; Rivadeneira, Fernando F; Robino, Antonietta A; Rosas, Sylvia E SE; Ruderfer, Douglas D; Ruggiero, Daniela D; Saba, Yasaman Y; Sala, Cinzia C; Schmidt, Helena H; Schmidt, Reinhold R; Scott, Rodney J RJ; Sedaghat, Sanaz S; Smith, Albert V AV; Sorice, Rossella R; Stengel, Benedicte B; Stracke, Sylvia S; Strauch, Konstantin K; Toniolo, Daniela D; Uitterlinden, Andre G AG; Ulivi, Sheila S; Viikari, Jorma S JS; Völker, Uwe U; Vollenweider, Peter P; Völzke, Henry H; Vuckovic, Dragana D; Waldenberger, Melanie M; Jin Wang, Jie J; Yang, Qiong Q; Chasman, Daniel I DI; Tromp, Gerard G; Snieder, Harold H; Heid, Iris M IM; Fox, Caroline S CS; Köttgen, Anna A; Pattaro, Cristian C; Böger, Carsten A CA; Fuchsberger, Christian C
Publication Date: 2017-04-28

Variant appearance in text: rs12460876
PubMed Link: 28452372
Variant Present in the following documents:
  • srep45040-s1.pdf
View BVdb publication page



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: rs12460876
PubMed Link: 28201750
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs12460876
PubMed Link: 27412012
Variant Present in the following documents:
  • supp_ddw211_GWA_apoA4_Supplement_Final.pdf
View BVdb publication page



Influence of common genetic variants on childhood kidney outcomes.

Pediatric Research
Miliku, Kozeta K; Vogelezang, Suzanne S; Franco, Oscar H OH; Hofman, Albert A; Jaddoe, Vincent W V VW; Felix, Janine F JF
Publication Date: 2016-07

Variant appearance in text: rs12460876
PubMed Link: 26959481
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs12460876
PubMed Link: 26831199
Variant Present in the following documents:
  • ncomms10023.pdf
  • ncomms10023-s1.pdf
View BVdb publication page



Genome-wide association study reveals a polymorphism in the podocyte receptor RANK for the decline of renal function in coronary patients.

Plos One
Leiherer, Andreas A; Muendlein, Axel A; Rein, Philipp P; Saely, Christoph H CH; Kinz, Elena E; Vonbank, Alexander A; Fraunberger, Peter P; Drexel, Heinz H
Publication Date: 2014

Variant appearance in text: rs12460876
PubMed Link: 25478860
Variant Present in the following documents:
  • Main text
  • pone.0114240.pdf
View BVdb publication page



A gene variant in CERS2 is associated with rate of increase in albuminuria in patients with diabetes from ONTARGET and TRANSCEND.

Plos One
Shiffman, Dov D; Pare, Guillaume G; Oberbauer, Rainer R; Louie, Judy Z JZ; Rowland, Charles M CM; Devlin, James J JJ; Mann, Johannes F JF; McQueen, Matthew J MJ
Publication Date: 2014

Variant appearance in text: rs12460876
PubMed Link: 25238615
Variant Present in the following documents:
  • Main text
  • pone.0106631.pdf
View BVdb publication page



Functional genomic annotation of genetic risk loci highlights inflammation and epithelial biology networks in CKD.

Journal Of The American Society Of Nephrology : Jasn
Ledo, Nora N; Ko, Yi-An YA; Park, Ae-Seo Deok AS; Kang, Hyun-Mi HM; Han, Sang-Youb SY; Choi, Peter P; Susztak, Katalin K
Publication Date: 2015-03

Variant appearance in text: rs12460876
PubMed Link: 25231882
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrative biology identifies shared transcriptional networks in CKD.

Journal Of The American Society Of Nephrology : Jasn
Martini, Sebastian S; Nair, Viji V; Keller, Benjamin J BJ; Eichinger, Felix F; Hawkins, Jennifer J JJ; Randolph, Ann A; Böger, Carsten A CA; Gadegbeku, Crystal A CA; Fox, Caroline S CS; Cohen, Clemens D CD; Kretzler, Matthias M; , ; , ; ,
Publication Date: 2014-11

Variant appearance in text: rs12460876
PubMed Link: 24925724
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.

Plos Genetics
Rueedi, Rico R; Ledda, Mirko M; Nicholls, Andrew W AW; Salek, Reza M RM; Marques-Vidal, Pedro P; Morya, Edgard E; Sameshima, Koichi K; Montoliu, Ivan I; Da Silva, Laeticia L; Collino, Sebastiano S; Martin, François-Pierre FP; Rezzi, Serge S; Steinbeck, Christoph C; Waterworth, Dawn M DM; Waeber, Gérard G; Vollenweider, Peter P; Beckmann, Jacques S JS; Le Coutre, Johannes J; Mooser, Vincent V; Bergmann, Sven S; Genick, Ulrich K UK; Kutalik, Zoltán Z
Publication Date: 2014-02

Variant appearance in text: rs12460876
PubMed Link: 24586186
Variant Present in the following documents:
  • Main text
  • pgen.1004132.pdf
View BVdb publication page



Common variants in Mendelian kidney disease genes and their association with renal function.

Journal Of The American Society Of Nephrology : Jasn
Parsa, Afshin A; Fuchsberger, Christian C; Köttgen, Anna A; O'Seaghdha, Conall M CM; Pattaro, Cristian C; de Andrade, Mariza M; Chasman, Daniel I DI; Teumer, Alexander A; Endlich, Karlhans K; Olden, Matthias M; Chen, Ming-Huei MH; Tin, Adrienne A; Kim, Young J YJ; Taliun, Daniel D; Li, Man M; Feitosa, Mary M; Gorski, Mathias M; Yang, Qiong Q; Hundertmark, Claudia C; Foster, Meredith C MC; Glazer, Nicole N; Isaacs, Aaron A; Rao, Madhumathi M; Smith, Albert V AV; O'Connell, Jeffrey R JR; Struchalin, Maksim M; Tanaka, Toshiko T; Li, Guo G; Hwang, Shih-Jen SJ; Atkinson, Elizabeth J EJ; Lohman, Kurt K; Cornelis, Marilyn C MC; Johansson, Asa A; Tönjes, Anke A; Dehghan, Abbas A; Couraki, Vincent V; Holliday, Elizabeth G EG; Sorice, Rossella R; Kutalik, Zoltan Z; Lehtimäki, Terho T; Esko, Tõnu T; Deshmukh, Harshal H; Ulivi, Sheila S; Chu, Audrey Y AY; Murgia, Federico F; Trompet, Stella S; Imboden, Medea M; Kollerits, Barbara B; Pistis, Giorgio G; Harris, Tamara B TB; Launer, Lenore J LJ; Aspelund, Thor T; Eiriksdottir, Gudny G; Mitchell, Braxton D BD; Boerwinkle, Eric E; Schmidt, Helena H; Hofer, Edith E; Hu, Frank F; Demirkan, Ayse A; Oostra, Ben A BA; Turner, Stephen T ST; Ding, Jingzhong J; Andrews, Jeanette S JS; Freedman, Barry I BI; Giulianini, Franco F; Koenig, Wolfgang W; Illig, Thomas T; Döring, Angela A; Wichmann, H-Erich HE; Zgaga, Lina L; Zemunik, Tatijana T; Boban, Mladen M; Minelli, Cosetta C; Wheeler, Heather E HE; Igl, Wilmar W; Zaboli, Ghazal G; Wild, Sarah H SH; Wright, Alan F AF; Campbell, Harry H; Ellinghaus, David D; Nöthlings, Ute U; Jacobs, Gunnar G; Biffar, Reiner R; Ernst, Florian F; Homuth, Georg G; Kroemer, Heyo K HK; Nauck, Matthias M; Stracke, Sylvia S; Völker, Uwe U; Völzke, Henry H; Kovacs, Peter P; Stumvoll, Michael M; Mägi, Reedik R; Hofman, Albert A; Uitterlinden, Andre G AG; Rivadeneira, Fernando F; Aulchenko, Yurii S YS; Polasek, Ozren O; Hastie, Nick N; Vitart, Veronique V; Helmer, Catherine C; Wang, Jie Jin JJ; Stengel, Bénédicte B; Ruggiero, Daniela D; Bergmann, Sven S; Kähönen, Mika M; Viikari, Jorma J; Nikopensius, Tiit T; Province, Michael M; Colhoun, Helen H; Doney, Alex A; Robino, Antonietta A; Krämer, Bernhard K BK; Portas, Laura L; Ford, Ian I; Buckley, Brendan M BM; Adam, Martin M; Thun, Gian-Andri GA; Paulweber, Bernhard B; Haun, Margot M; Sala, Cinzia C; Mitchell, Paul P; Ciullo, Marina M; Vollenweider, Peter P; Raitakari, Olli O; Metspalu, Andres A; Palmer, Colin C; Gasparini, Paolo P; Pirastu, Mario M; Jukema, J Wouter JW; Probst-Hensch, Nicole M NM; Kronenberg, Florian F; Toniolo, Daniela D; Gudnason, Vilmundur V; Shuldiner, Alan R AR; Coresh, Josef J; Schmidt, Reinhold R; Ferrucci, Luigi L; van Duijn, Cornelia M CM; Borecki, Ingrid I; Kardia, Sharon L R SL; Liu, Yongmei Y; Curhan, Gary C GC; Rudan, Igor I; Gyllensten, Ulf U; Wilson, James F JF; Franke, Andre A; Pramstaller, Peter P PP; Rettig, Rainer R; Prokopenko, Inga I; Witteman, Jacqueline J; Hayward, Caroline C; Ridker, Paul M PM; Bochud, Murielle M; Heid, Iris M IM; Siscovick, David S DS; Fox, Caroline S CS; Kao, W Linda WL; Böger, Carsten A CA
Publication Date: 2013-12

Variant appearance in text: rs12460876
PubMed Link: 24029420
Variant Present in the following documents:
  • Main text
View BVdb publication page



Investigation of known estimated glomerular filtration rate loci in patients with type 2 diabetes.

Diabetic Medicine : A Journal Of The British Diabetic Association
Deshmukh, H A HA; Palmer, C N A CN; Morris, A D AD; Colhoun, H M HM
Publication Date: 2013-10

Variant appearance in text: rs12460876
PubMed Link: 23586973
Variant Present in the following documents:
  • Main text
View BVdb publication page



Overlap between common genetic polymorphisms underpinning kidney traits and cardiovascular disease phenotypes: the CKDGen consortium.

American Journal Of Kidney Diseases : The Official Journal Of The National Kidney Foundation
Olden, Matthias M; Teumer, Alexander A; Bochud, Murielle M; Pattaro, Cristian C; Köttgen, Anna A; Turner, Stephen T ST; Rettig, Rainer R; Chen, Ming-Huei MH; Dehghan, Abbas A; Bastardot, Francois F; Schmidt, Reinhold R; Vollenweider, Peter P; Schunkert, Heribert H; Reilly, Muredach P MP; Fornage, Myriam M; Launer, Lenore J LJ; Verwoert, Germaine C GC; Mitchell, Gary F GF; Bis, Joshua C JC; O'Donnell, Christopher J CJ; Cheng, Ching-Yu CY; Sim, Xueling X; Siscovick, David S DS; Coresh, Josef J; Kao, W H Linda WH; Fox, Caroline S CS; O'Seaghdha, Conall M CM; ,
Publication Date: 2013-06

Variant appearance in text: rs12460876
PubMed Link: 23474010
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs12460876
PubMed Link: 23028791
Variant Present in the following documents:
  • Main text
  • pone.0045112.pdf
View BVdb publication page



Validated SNPs for eGFR and their associations with albuminuria.

Human Molecular Genetics
Ellis, Jaclyn W JW; Chen, Ming-Huei MH; Foster, Meredith C MC; Liu, Ching-Ti CT; Larson, Martin G MG; de Boer, Ian I; Köttgen, Anna A; Parsa, Afshin A; Bochud, Murielle M; Böger, Carsten A CA; Kao, Linda L; Fox, Caroline S CS; O'Seaghdha, Conall M CM; , ; ,
Publication Date: 2012-07-15

Variant appearance in text: rs12460876
PubMed Link: 22492995
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association studies of chronic kidney disease: what have we learned?

Nature Reviews. Nephrology
O'Seaghdha, Conall M CM; Fox, Caroline S CS
Publication Date: 2011-12-06

Variant appearance in text: rs12460876
PubMed Link: 22143329
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of eGFR-Related Loci Identified by GWAS with Incident CKD and ESRD.

Plos Genetics
Böger, Carsten A CA; Gorski, Mathias M; Li, Man M; Hoffmann, Michael M MM; Huang, Chunmei C; Yang, Qiong Q; Teumer, Alexander A; Krane, Vera V; O'Seaghdha, Conall M CM; Kutalik, Zoltán Z; Wichmann, H-Erich HE; Haak, Thomas T; Boes, Eva E; Coassin, Stefan S; Coresh, Josef J; Kollerits, Barbara B; Haun, Margot M; Paulweber, Bernhard B; Köttgen, Anna A; Li, Guo G; Shlipak, Michael G MG; Powe, Neil N; Hwang, Shih-Jen SJ; Dehghan, Abbas A; Rivadeneira, Fernando F; Uitterlinden, André A; Hofman, Albert A; Beckmann, Jacques S JS; Krämer, Bernhard K BK; Witteman, Jacqueline J; Bochud, Murielle M; Siscovick, David D; Rettig, Rainer R; Kronenberg, Florian F; Wanner, Christoph C; Thadhani, Ravi I RI; Heid, Iris M IM; Fox, Caroline S CS; Kao, W H WH; ,
Publication Date: 2011-09

Variant appearance in text: rs12460876
PubMed Link: 21980298
Variant Present in the following documents:
  • Main text
  • pgen.1002292.pdf
View BVdb publication page



Genetic association for renal traits among participants of African ancestry reveals new loci for renal function.

Plos Genetics
Liu, Ching-Ti CT; Garnaas, Maija K MK; Tin, Adrienne A; Kottgen, Anna A; Franceschini, Nora N; Peralta, Carmen A CA; de Boer, Ian H IH; Lu, Xiaoning X; Atkinson, Elizabeth E; Ding, Jingzhong J; Nalls, Michael M; Shriner, Daniel D; Coresh, Josef J; Kutlar, Abdullah A; Bibbins-Domingo, Kirsten K; Siscovick, David D; Akylbekova, Ermeg E; Wyatt, Sharon S; Astor, Brad B; Mychaleckjy, Josef J; Li, Man M; Reilly, Muredach P MP; Townsend, Raymond R RR; Adeyemo, Adebowale A; Zonderman, Alan B AB; de Andrade, Mariza M; Turner, Stephen T ST; Mosley, Thomas H TH; Harris, Tamara B TB; , ; Rotimi, Charles N CN; Liu, Yongmei Y; Kardia, Sharon L R SL; Evans, Michele K MK; Shlipak, Michael G MG; Kramer, Holly H; Flessner, Michael F MF; Dreisbach, Albert W AW; Goessling, Wolfram W; Cupples, L Adrienne LA; Kao, W Linda WL; Fox, Caroline S CS
Publication Date: 2011-09

Variant appearance in text: rs12460876
PubMed Link: 21931561
Variant Present in the following documents:
  • Main text
View BVdb publication page