CDK12 c.1931+3908G>C

Variant ID: 17-37631924-G-C

NM_016507.2(CDK12):c.1931+3908G>C

This variant was identified in 8 publications

View GRCh38 version.




Publications:


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: rs11078903
PubMed Link: 30467309
Variant Present in the following documents:
  • 41467_2018_Article_7260.pdf
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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: rs11078903
PubMed Link: 30359254
Variant Present in the following documents:
  • Main text
  • 12967_2018_Article_1664.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: rs11078903
PubMed Link: 30275566
Variant Present in the following documents:
  • Main text
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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: rs11078903
PubMed Link: 28575649
Variant Present in the following documents:
  • Main text
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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: rs11078903
PubMed Link: 28452372
Variant Present in the following documents:
  • srep45040-s1.pdf
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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: rs11078903
PubMed Link: 26959481
Variant Present in the following documents:
  • Main text
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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: rs11078903
PubMed Link: 25231882
Variant Present in the following documents:
  • Main text
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Genome-wide association and functional follow-up reveals new loci for kidney function.

Plos Genetics
Pattaro, Cristian C; Köttgen, Anna A; Teumer, Alexander A; Garnaas, Maija M; Böger, Carsten A CA; Fuchsberger, Christian C; Olden, Matthias M; Chen, Ming-Huei MH; Tin, Adrienne A; Taliun, Daniel D; Li, Man M; Gao, Xiaoyi X; Gorski, Mathias M; Yang, Qiong Q; Hundertmark, Claudia C; Foster, Meredith C MC; O'Seaghdha, Conall M CM; Glazer, Nicole N; Isaacs, Aaron A; Liu, Ching-Ti CT; Smith, Albert V AV; O'Connell, Jeffrey R JR; Struchalin, Maksim M; Tanaka, Toshiko T; Li, Guo G; Johnson, Andrew D AD; Gierman, Hinco J HJ; Feitosa, Mary M; Hwang, Shih-Jen SJ; Atkinson, Elizabeth J EJ; Lohman, Kurt K; Cornelis, Marilyn C MC; Johansson, Åsa Å; Tönjes, Anke A; Dehghan, Abbas A; Chouraki, 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; Cavalieri, Margherita M; Rao, Madhumathi M; Hu, Frank B FB; Demirkan, Ayse A; Oostra, Ben A BA; de Andrade, Mariza M; Turner, Stephen T ST; Ding, Jingzhong J; Andrews, Jeanette S JS; Freedman, Barry I BI; Koenig, Wolfgang W; Illig, Thomas T; Döring, Angela A; Wichmann, H-Erich HE; Kolcic, Ivana I; 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; Endlich, Karlhans K; 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; Ruggiero, Daniela D; Bergmann, Sven S; Kähönen, Mika M; Viikari, Jorma J; Nikopensius, Tiit T; Province, Michael M; Ketkar, Shamika S; Colhoun, Helen H; Doney, Alex A; Robino, Antonietta A; Giulianini, Franco F; 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; Metzger, Marie M; Mitchell, Paul P; Ciullo, Marina M; Kim, Stuart K SK; 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; Siscovick, David S DS; 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 C M JC; Hayward, Caroline C; Ridker, Paul P; Parsa, Afshin A; Bochud, Murielle M; Heid, Iris M IM; Goessling, Wolfram W; Chasman, Daniel I DI; Kao, W H Linda WH; Fox, Caroline S CS
Publication Date: 2012

Variant appearance in text: rs11078903
PubMed Link: 22479191
Variant Present in the following documents:
  • Main text
  • pgen.1002584.pdf
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