GSS c.492-134A>C

Variant ID: 20-33529766-T-G

NM_000178.2(GSS):c.492-134A>C

This variant was identified in 13 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: rs2273684
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Brown and beige adipose tissue regulate systemic metabolism through a metabolite interorgan signaling axis.

Nature Communications
Whitehead, Anna A; Krause, Fynn N FN; Moran, Amy A; MacCannell, Amanda D V ADV; Scragg, Jason L JL; McNally, Ben D BD; Boateng, Edward E; Murfitt, Steven A SA; Virtue, Samuel S; Wright, John J; Garnham, Jack J; Davies, Graeme R GR; Dodgson, James J; Schneider, Jurgen E JE; Murray, Andrew J AJ; Church, Christopher C; Vidal-Puig, Antonio A; Witte, Klaus K KK; Griffin, Julian L JL; Roberts, Lee D LD
Publication Date: 2021-03-26

Variant appearance in text: rs2273684
PubMed Link: 33772024
Variant Present in the following documents:
  • 41467_2021_22272_MOESM1_ESM.pdf
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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: rs2273684
PubMed Link: 31440704
Variant Present in the following documents:
  • Main text
  • main.pdf
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Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.

Nature Communications
Morris, Andrew P AP; Le, Thu H TH; Wu, Haojia H; Akbarov, Artur A; van der Most, Peter J PJ; Hemani, Gibran G; Smith, George Davey GD; Mahajan, Anubha A; Gaulton, Kyle J KJ; Nadkarni, Girish N GN; Valladares-Salgado, Adan A; Wacher-Rodarte, Niels N; Mychaleckyj, Josyf C JC; Dueker, Nicole D ND; Guo, Xiuqing X; Hai, Yang Y; Haessler, Jeffrey J; Kamatani, Yoichiro Y; Stilp, Adrienne M AM; Zhu, Gu G; Cook, James P JP; Ärnlöv, Johan J; Blanton, Susan H SH; de Borst, Martin H MH; Bottinger, Erwin P EP; Buchanan, Thomas A TA; Cechova, Sylvia S; Charchar, Fadi J FJ; Chu, Pei-Lun PL; Damman, Jeffrey J; Eales, James J; Gharavi, Ali G AG; Giedraitis, Vilmantas V; Heath, Andrew C AC; Ipp, Eli E; Kiryluk, Krzysztof K; Kramer, Holly J HJ; Kubo, Michiaki M; Larsson, Anders A; Lindgren, Cecilia M CM; Lu, Yingchang Y; Madden, Pamela A F PAF; Montgomery, Grant W GW; Papanicolaou, George J GJ; Raffel, Leslie J LJ; Sacco, Ralph L RL; Sanchez, Elena E; Stark, Holger H; Sundstrom, Johan J; Taylor, Kent D KD; Xiang, Anny H AH; Zivkovic, Aleksandra A; Lind, Lars L; Ingelsson, Erik E; Martin, Nicholas G NG; Whitfield, John B JB; Cai, Jianwen J; Laurie, Cathy C CC; Okada, Yukinori Y; Matsuda, Koichi K; Kooperberg, Charles C; Chen, Yii-Der Ida YI; Rundek, Tatjana T; Rich, Stephen S SS; Loos, Ruth J F RJF; Parra, Esteban J EJ; Cruz, Miguel M; Rotter, Jerome I JI; Snieder, Harold H; Tomaszewski, Maciej M; Humphreys, Benjamin D BD; Franceschini, Nora N
Publication Date: 2019-01-03

Variant appearance in text: rs2273684
PubMed Link: 30604766
Variant Present in the following documents:
  • 41467_2018_Article_7867.pdf
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Bayesian longitudinal low-rank regression models for imaging genetic data from longitudinal studies.

Neuroimage
Lu, Zhao-Hua ZH; Khondker, Zakaria Z; Ibrahim, Joseph G JG; Wang, Yue Y; Zhu, Hongtu H; ,
Publication Date: 2017-04-01

Variant appearance in text: rs2273684
PubMed Link: 28143775
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: rs2273684
PubMed Link: 26831199
Variant Present in the following documents:
  • ncomms10023-s1.pdf
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Oxidative stress in susceptibility to breast cancer: study in Spanish population.

Bmc Cancer
Rodrigues, Patricia P; de Marco, Griselda G; Furriol, Jessica J; Mansego, Maria Luisa ML; Pineda-Alonso, Mónica M; Gonzalez-Neira, Anna A; Martin-Escudero, Juan Carlos JC; Benitez, Javier J; Lluch, Ana A; Chaves, Felipe J FJ; Eroles, Pilar P
Publication Date: 2014-11-21

Variant appearance in text: rs2273684
PubMed Link: 25416100
Variant Present in the following documents:
  • Main text
  • 12885_2014_Article_5048.pdf
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Variable association of reactive intermediate genes with systemic lupus erythematosus in populations with different African ancestry.

The Journal Of Rheumatology
Ramos, Paula S PS; Oates, James C JC; Kamen, Diane L DL; Williams, Adrienne H AH; Gaffney, Patrick M PM; Kelly, Jennifer A JA; Kaufman, Kenneth M KM; Kimberly, Robert P RP; Niewold, Timothy B TB; Jacob, Chaim O CO; Tsao, Betty P BP; Alarcón, Graciela S GS; Brown, Elizabeth E EE; Edberg, Jeffrey C JC; Petri, Michelle A MA; Ramsey-Goldman, Rosalind R; Reveille, John D JD; Vilá, Luis M LM; James, Judith A JA; Guthridge, Joel M JM; Merrill, Joan T JT; Boackle, Susan A SA; Freedman, Barry I BI; Scofield, R Hal RH; Stevens, Anne M AM; Vyse, Timothy J TJ; Criswell, Lindsey A LA; Moser, Kathy L KL; Alarcón-Riquelme, Marta E ME; Langefeld, Carl D CD; Harley, John B JB; Gilkeson, Gary S GS
Publication Date: 2013-06

Variant appearance in text: rs2273684
PubMed Link: 23637325
Variant Present in the following documents:
  • Main text
View BVdb publication page



Replication of bipolar disorder susceptibility alleles and identification of two novel genome-wide significant associations in a new bipolar disorder case-control sample.

Molecular Psychiatry
Green, E K EK; Hamshere, M M; Forty, L L; Gordon-Smith, K K; Fraser, C C; Russell, E E; Grozeva, D D; Kirov, G G; Holmans, P P; Moran, J L JL; Purcell, S S; Sklar, P P; Owen, M J MJ; O'Donovan, M C MC; Jones, L L; , ; Jones, I R IR; Craddock, N N
Publication Date: 2013-12

Variant appearance in text: rs2273684
PubMed Link: 23070075
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variations and patient-reported quality of life among patients with lung cancer.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Sloan, Jeff A JA; de Andrade, Mariza M; Decker, Paul P; Wampfler, Jason J; Oswold, Curtis C; Clark, Matthew M; Yang, Ping P
Publication Date: 2012-05-10

Variant appearance in text: rs2273684
PubMed Link: 22454423
Variant Present in the following documents:
  • Main text
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Genomics of ADME gene expression: mapping expression quantitative trait loci relevant for absorption, distribution, metabolism and excretion of drugs in human liver.

The Pharmacogenomics Journal
Schröder, A A; Klein, K K; Winter, S S; Schwab, M M; Bonin, M M; Zell, A A; Zanger, U M UM
Publication Date: 2013-02

Variant appearance in text: rs2273684
PubMed Link: 22006096
Variant Present in the following documents:
  • Main text
  • tpj201144a.pdf
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Genetic variation in glutathione metabolism and DNA repair genes predicts survival of small-cell lung cancer patients.

Annals Of Oncology : Official Journal Of The European Society For Medical Oncology
Sun, Z Z; Chen, J J; Aakre, J J; Marks, R S RS; Garces, Y Y YY; Jiang, R R; Idowu, O O; Cunningham, J M JM; Liu, Y Y; Pankratz, V S VS; Yang, P P
Publication Date: 2010-10

Variant appearance in text: rs2273684
PubMed Link: 20439344
Variant Present in the following documents:
  • Main text
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Schizophrenia and oxidative stress: glutamate cysteine ligase modifier as a susceptibility gene.

American Journal Of Human Genetics
Tosic, Mirjana M; Ott, Jurg J; Barral, Sandra S; Bovet, Pierre P; Deppen, Patricia P; Gheorghita, Fulvia F; Matthey, Marie-Louise ML; Parnas, Josef J; Preisig, Martin M; Saraga, Michael M; Solida, Alessandra A; Timm, Sally S; Wang, August G AG; Werge, Thomas T; Cuénod, Michel M; Do, Kim Quang KQ
Publication Date: 2006-09

Variant appearance in text: rs2273684
PubMed Link: 16909399
Variant Present in the following documents:
  • Main text
View BVdb publication page