FBXL20 c.42+14165A>T

Variant ID: 17-37543449-T-A

NM_032875.2(FBXL20):c.42+14165A>T

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs7208487
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
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: rs7208487
PubMed Link: 26831199
Variant Present in the following documents:
  • ncomms10023-s1.pdf
  • ncomms10023.pdf
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Identification of NF-κB and PLCL2 as new susceptibility genes and highlights on a potential role of IRF8 through interferon signature modulation in systemic sclerosis.

Arthritis Research & Therapy
Arismendi, Maria M; Giraud, Matthieu M; Ruzehaji, Nadira N; Dieudé, Philippe P; Koumakis, Eugenie E; Ruiz, Barbara B; Airo, Paolo P; Cusi, Daniele D; Matucci-Cerinic, Marco M; Salvi, Erika E; Cuomo, Giovanna G; Hachulla, Eric E; Diot, Elisabeth E; Caramaschi, Paola P; Riccieri, Valeria V; Avouac, Jérôme J; Kayser, Cristiane C; Allanore, Yannick Y
Publication Date: 2015-03-21

Variant appearance in text: rs7208487
PubMed Link: 25880423
Variant Present in the following documents:
  • Main text
  • 13075_2015_Article_572.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: rs7208487
PubMed Link: 25231882
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integration of genome-wide association studies with biological knowledge identifies six novel genes related to kidney function.

Human Molecular Genetics
Chasman, Daniel I DI; Fuchsberger, Christian C; Pattaro, Cristian C; Teumer, Alexander A; Böger, Carsten A CA; Endlich, Karlhans K; 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 F MF; Hwang, Shih-Jen SJ; Atkinson, Elizabeth J EJ; Lohman, Kurt K; Cornelis, Marilyn C MC; Johansson, Asa A; Tönjes, Anke A; Dehghan, Abbas A; Lambert, Jean-Charles JC; 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; Coassin, Stefan S; 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 F; 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; Giulianini, Franco F; Koenig, Wolfgang W; Illig, Thomas T; Meisinger, Christa C; Gieger, Christian C; 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; Ketkar, Shamika S; 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; 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 B IB; 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; Parsa, Afshin A; Bochud, Murielle M; Heid, Iris M IM; Kao, W H Linda WH; Fox, Caroline S CS; Köttgen, Anna A
Publication Date: 2012-12-15

Variant appearance in text: rs7208487
PubMed Link: 22962313
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.

Nature Genetics
Mells, George F GF; Floyd, James A B JA; Morley, Katherine I KI; Cordell, Heather J HJ; Franklin, Christopher S CS; Shin, So-Youn SY; Heneghan, Michael A MA; Neuberger, James M JM; Donaldson, Peter T PT; Day, Darren B DB; Ducker, Samantha J SJ; Muriithi, Agnes W AW; Wheater, Elizabeth F EF; Hammond, Christopher J CJ; Dawwas, Muhammad F MF; , ; , ; Jones, David E DE; Peltonen, Leena L; Alexander, Graeme J GJ; Sandford, Richard N RN; Anderson, Carl A CA
Publication Date: 2011-03-13

Variant appearance in text: rs7208487
PubMed Link: 21399635
Variant Present in the following documents:
  • Main text
  • NIHMS34438-supplement-1.pdf
View BVdb publication page