RPTOR c.163-8380A>C

Variant ID: 17-78591111-A-C

NM_020761.2(RPTOR):c.163-8380A>C

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Evaluation of polygenic risk score for risk prediction of gastric cancer.

World Journal Of Gastrointestinal Oncology
Wang, Xiao-Yu XY; Wang, Li-Li LL; Xu, Lin L; Liang, Shu-Zhen SZ; Yu, Meng-Chao MC; Zhang, Qiu-Yue QY; Dong, Quan-Jiang QJ
Publication Date: 2023-02-15

Variant appearance in text: rs7503807
PubMed Link: 36908320
Variant Present in the following documents:
  • WJGO-15-276.pdf
View BVdb publication page



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: rs7503807
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Assessing 48 SNPs in Hypertensive Paediatric Patients and Young Adults with Review of Genetic Background of Essential Hypertension.

Children (Basel, Switzerland)
Močnik, Mirjam M; Zagradišnik, Boris B; Marčun Varda, Nataša N
Publication Date: 2022-08-21

Variant appearance in text: rs7503807
PubMed Link: 36010152
Variant Present in the following documents:
  • Main text
  • children-09-01262.pdf
View BVdb publication page



Polymorphisms in the mTOR-PI3K-Akt pathway, energy balance-related exposures and colorectal cancer risk in the Netherlands Cohort Study.

Biodata Mining
Simons, Colinda C J M CCJM; Schouten, Leo J LJ; Godschalk, Roger W L RWL; van Schooten, Frederik-Jan FJ; Stoll, Monika M; Van Steen, Kristel K; van den Brandt, Piet A PA; Weijenberg, Matty P MP
Publication Date: 2022-01-10

Variant appearance in text: rs7503807
PubMed Link: 35012583
Variant Present in the following documents:
  • Main text
  • 13040_2021_Article_286.pdf
View BVdb publication page



Polymorphisms in the mTOR-PI3K-Akt pathway, energy balance-related exposures and colorectal cancer risk in the Netherlands Cohort Study.

Biodata Mining
Simons, Colinda C J M CCJM; Schouten, Leo J LJ; Godschalk, Roger W L RWL; van Schooten, Frederik-Jan FJ; Stoll, Monika M; Van Steen, Kristel K; van den Brandt, Piet A PA; Weijenberg, Matty P MP
Publication Date: 2022-01-10

Variant appearance in text: rs7503807
PubMed Link: 35012583
Variant Present in the following documents:
  • Main text
  • 13040_2021_Article_286.pdf
View BVdb publication page



Genetically predicted high body mass index is associated with increased gastric cancer risk.

European Journal Of Human Genetics : Ejhg
Mao, Yingying Y; Yan, Caiwang C; Lu, Qun Q; Zhu, Meng M; Yu, Fei F; Wang, Cheng C; Dai, Juncheng J; Ma, Hongxia H; Hu, Zhibin Z; Shen, Hongbing H; Jin, Guangfu G
Publication Date: 2017-09

Variant appearance in text: rs7503807
PubMed Link: 28635950
Variant Present in the following documents:
  • Main text
View BVdb publication page



Obesity genetics in mouse and human: back and forth, and back again.

Peerj
Yazdi, Fereshteh T FT; Clee, Susanne M SM; Meyre, David D
Publication Date: 2015

Variant appearance in text: rs7503807
PubMed Link: 25825681
Variant Present in the following documents:
  • Main text
  • peerj-03-856.pdf
View BVdb publication page



GWIS--model-free, fast and exhaustive search for epistatic interactions in case-control GWAS.

Bmc Genomics
Goudey, Benjamin B; Rawlinson, David D; Wang, Qiao Q; Shi, Fan F; Ferra, Herman H; Campbell, Richard M RM; Stern, Linda L; Inouye, Michael T MT; Ong, Cheng Soon CS; Kowalczyk, Adam A
Publication Date: 2013

Variant appearance in text: rs7503807
PubMed Link: 23819779
Variant Present in the following documents:
  • 1471-2164-14-S3-S10-S1.pdf
View BVdb publication page



Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

Nature Genetics
Berndt, Sonja I SI; Gustafsson, Stefan S; Mägi, Reedik R; Ganna, Andrea A; Wheeler, Eleanor E; Feitosa, Mary F MF; Justice, Anne E AE; Monda, Keri L KL; Croteau-Chonka, Damien C DC; Day, Felix R FR; Esko, Tõnu T; Fall, Tove T; Ferreira, Teresa T; Gentilini, Davide D; Jackson, Anne U AU; Luan, Jian'an J; Randall, Joshua C JC; Vedantam, Sailaja S; Willer, Cristen J CJ; Winkler, Thomas W TW; Wood, Andrew R AR; Workalemahu, Tsegaselassie T; Hu, Yi-Juan YJ; Lee, Sang Hong SH; Liang, Liming L; Lin, Dan-Yu DY; Min, Josine L JL; Neale, Benjamin M BM; Thorleifsson, Gudmar G; Yang, Jian J; Albrecht, Eva E; Amin, Najaf N; Bragg-Gresham, Jennifer L JL; Cadby, Gemma G; den Heijer, Martin M; Eklund, Niina N; Fischer, Krista K; Goel, Anuj A; Hottenga, Jouke-Jan JJ; Huffman, Jennifer E JE; Jarick, Ivonne I; Johansson, Åsa Å; Johnson, Toby T; Kanoni, Stavroula S; Kleber, Marcus E ME; König, Inke R IR; Kristiansson, Kati K; Kutalik, Zoltán Z; Lamina, Claudia C; Lecoeur, Cecile C; Li, Guo G; Mangino, Massimo M; McArdle, Wendy L WL; Medina-Gomez, Carolina C; Müller-Nurasyid, Martina M; Ngwa, Julius S JS; Nolte, Ilja M IM; Paternoster, Lavinia L; Pechlivanis, Sonali S; Perola, Markus M; Peters, Marjolein J MJ; Preuss, Michael M; Rose, Lynda M LM; Shi, Jianxin J; Shungin, Dmitry D; Smith, Albert Vernon AV; Strawbridge, Rona J RJ; Surakka, Ida I; Teumer, Alexander A; Trip, Mieke D MD; Tyrer, Jonathan J; Van Vliet-Ostaptchouk, Jana V JV; Vandenput, Liesbeth L; Waite, Lindsay L LL; Zhao, Jing Hua JH; Absher, Devin D; Asselbergs, Folkert W FW; Atalay, Mustafa M; Attwood, Antony P AP; Balmforth, Anthony J AJ; Basart, Hanneke H; Beilby, John J; Bonnycastle, Lori L LL; Brambilla, Paolo P; Bruinenberg, Marcel M; Campbell, Harry H; Chasman, Daniel I DI; Chines, Peter S PS; Collins, Francis S FS; Connell, John M JM; Cookson, William O WO; de Faire, Ulf U; de Vegt, Femmie F; Dei, Mariano M; Dimitriou, Maria M; Edkins, Sarah S; Estrada, Karol K; Evans, David M DM; Farrall, Martin M; Ferrario, Marco M MM; Ferrières, Jean J; Franke, Lude L; Frau, Francesca F; Gejman, Pablo V PV; Grallert, Harald H; Grönberg, Henrik H; Gudnason, Vilmundur V; Hall, Alistair S AS; Hall, Per P; Hartikainen, Anna-Liisa AL; Hayward, Caroline C; Heard-Costa, Nancy L NL; Heath, Andrew C AC; Hebebrand, Johannes J; Homuth, Georg G; Hu, Frank B FB; Hunt, Sarah E SE; Hyppönen, Elina E; Iribarren, Carlos C; Jacobs, Kevin B KB; Jansson, John-Olov JO; Jula, Antti A; Kähönen, Mika M; Kathiresan, Sekar S; Kee, Frank F; Khaw, Kay-Tee KT; Kivimäki, Mika M; Koenig, Wolfgang W; Kraja, Aldi T AT; Kumari, Meena M; Kuulasmaa, Kari K; Kuusisto, Johanna J; Laitinen, Jaana H JH; Lakka, Timo A TA; Langenberg, Claudia C; Launer, Lenore J LJ; Lind, Lars L; Lindström, Jaana J; Liu, Jianjun J; Liuzzi, Antonio A; Lokki, Marja-Liisa ML; Lorentzon, Mattias M; Madden, Pamela A PA; Magnusson, Patrik K PK; Manunta, Paolo P; Marek, Diana D; März, Winfried W; Mateo Leach, Irene I; McKnight, Barbara B; Medland, Sarah E SE; Mihailov, Evelin E; Milani, Lili L; Montgomery, Grant W GW; Mooser, Vincent V; Mühleisen, Thomas W TW; Munroe, Patricia B PB; Musk, Arthur W AW; Narisu, Narisu N; Navis, Gerjan G; Nicholson, George G; Nohr, Ellen A EA; Ong, Ken K KK; Oostra, Ben A BA; Palmer, Colin N A CN; Palotie, Aarno A; Peden, John F JF; Pedersen, Nancy N; Peters, Annette A; Polasek, Ozren O; Pouta, Anneli A; Pramstaller, Peter P PP; Prokopenko, Inga I; Pütter, Carolin C; Radhakrishnan, Aparna A; Raitakari, Olli O; Rendon, Augusto A; Rivadeneira, Fernando F; Rudan, Igor I; Saaristo, Timo E TE; Sambrook, Jennifer G JG; Sanders, Alan R AR; Sanna, Serena S; Saramies, Jouko J; Schipf, Sabine S; Schreiber, Stefan S; Schunkert, Heribert H; Shin, So-Youn SY; Signorini, Stefano S; Sinisalo, Juha J; Skrobek, Boris B; Soranzo, Nicole N; Stančáková, Alena A; Stark, Klaus K; Stephens, Jonathan C JC; Stirrups, Kathleen K; Stolk, Ronald P RP; Stumvoll, Michael M; Swift, Amy J AJ; Theodoraki, Eirini V EV; Thorand, Barbara B; Tregouet, David-Alexandre DA; Tremoli, Elena E; Van der Klauw, Melanie M MM; van Meurs, Joyce B J JB; Vermeulen, Sita H SH; Viikari, Jorma J; Virtamo, Jarmo J; Vitart, Veronique V; Waeber, Gérard G; Wang, Zhaoming Z; Widén, Elisabeth E; Wild, Sarah H SH; Willemsen, Gonneke G; Winkelmann, Bernhard R BR; Witteman, Jacqueline C M JC; Wolffenbuttel, Bruce H R BH; Wong, Andrew A; Wright, Alan F AF; Zillikens, M Carola MC; Amouyel, Philippe P; Boehm, Bernhard O BO; Boerwinkle, Eric E; Boomsma, Dorret I DI; Caulfield, Mark J MJ; Chanock, Stephen J SJ; Cupples, L Adrienne LA; Cusi, Daniele D; Dedoussis, George V GV; Erdmann, Jeanette J; Eriksson, Johan G JG; Franks, Paul W PW; Froguel, Philippe P; Gieger, Christian C; Gyllensten, Ulf U; Hamsten, Anders A; Harris, Tamara B TB; Hengstenberg, Christian C; Hicks, Andrew A AA; Hingorani, Aroon A; Hinney, Anke A; Hofman, Albert A; Hovingh, Kees G KG; Hveem, Kristian K; Illig, Thomas T; Jarvelin, Marjo-Riitta MR; Jöckel, Karl-Heinz KH; Keinanen-Kiukaanniemi, Sirkka M SM; Kiemeney, Lambertus A LA; Kuh, Diana D; Laakso, Markku M; Lehtimäki, Terho T; Levinson, Douglas F DF; Martin, Nicholas G NG; Metspalu, Andres A; Morris, Andrew D AD; Nieminen, Markku S MS; Njølstad, Inger I; Ohlsson, Claes C; Oldehinkel, Albertine J AJ; Ouwehand, Willem H WH; Palmer, Lyle J LJ; Penninx, Brenda B; Power, Chris C; Province, Michael A MA; Psaty, Bruce M BM; Qi, Lu L; Rauramaa, Rainer R; Ridker, Paul M PM; Ripatti, Samuli S; Salomaa, Veikko V; Samani, Nilesh J NJ; Snieder, Harold H; Sørensen, Thorkild I A TI; Spector, Timothy D TD; Stefansson, Kari K; Tönjes, Anke A; Tuomilehto, Jaakko J; Uitterlinden, André G AG; Uusitupa, Matti M; van der Harst, Pim P; Vollenweider, Peter P; Wallaschofski, Henri H; Wareham, Nicholas J NJ; Watkins, Hugh H; Wichmann, H-Erich HE; Wilson, James F JF; Abecasis, Goncalo R GR; Assimes, Themistocles L TL; Barroso, Inês I; Boehnke, Michael M; Borecki, Ingrid B IB; Deloukas, Panos P; Fox, Caroline S CS; Frayling, Timothy T; Groop, Leif C LC; Haritunian, Talin T; Heid, Iris M IM; Hunter, David D; Kaplan, Robert C RC; Karpe, Fredrik F; Moffatt, Miriam F MF; Mohlke, Karen L KL; O'Connell, Jeffrey R JR; Pawitan, Yudi Y; Schadt, Eric E EE; Schlessinger, David D; Steinthorsdottir, Valgerdur V; Strachan, David P DP; Thorsteinsdottir, Unnur U; van Duijn, Cornelia M CM; Visscher, Peter M PM; Di Blasio, Anna Maria AM; Hirschhorn, Joel N JN; Lindgren, Cecilia M CM; Morris, Andrew P AP; Meyre, David D; Scherag, André A; McCarthy, Mark I MI; Speliotes, Elizabeth K EK; North, Kari E KE; Loos, Ruth J F RJ; Ingelsson, Erik E
Publication Date: 2013-05

Variant appearance in text: rs7503807
PubMed Link: 23563607
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variations in PI3K-AKT-mTOR pathway and bladder cancer risk.

Carcinogenesis
Chen, Meng M; Cassidy, Adrian A; Gu, Jian J; Delclos, George L GL; Zhen, Fan F; Yang, Hushan H; Hildebrandt, Michelle A T MA; Lin, Jie J; Ye, Yuanqing Y; Chamberlain, Robert M RM; Dinney, Colin P CP; Wu, Xifeng X
Publication Date: 2009-12

Variant appearance in text: rs7503807
PubMed Link: 19875696
Variant Present in the following documents:
  • Main text
View BVdb publication page