NCAN c.1072+529C>T

Variant ID: 19-19336608-C-T

NM_004386.2(NCAN):c.1072+529C>T

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Genetic variation in TERT modifies the risk of hepatocellular carcinoma in alcohol-related cirrhosis: results from a genome-wide case-control study.

Gut
Buch, Stephan S; Innes, Hamish H; Lutz, Philipp Ludwig PL; Nischalke, Hans Dieter HD; Marquardt, Jens U JU; Fischer, Janett J; Weiss, Karl Heinz KH; Rosendahl, Jonas J; Marot, Astrid A; Krawczyk, Marcin M; Casper, Markus M; Lammert, Frank F; Eyer, Florian F; Vogel, Arndt A; Marhenke, Silke S; von Felden, Johann J; Sharma, Rohini R; Atkinson, Stephen Rahul SR; McQuillin, Andrew A; Nattermann, Jacob J; Schafmayer, Clemens C; Franke, Andre A; Strassburg, Christian C; Rietschel, Marcella M; Altmann, Heidi H; Sulk, Stefan S; Thangapandi, Veera Raghavan VR; Brosch, Mario M; Lackner, Carolin C; Stauber, Rudolf E RE; Canbay, Ali A; Link, Alexander A; Reiberger, Thomas T; Mandorfer, Mattias M; Semmler, Georg G; Scheiner, Bernhard B; Datz, Christian C; Romeo, Stefano S; Ginanni Corradini, Stefano S; Irving, William Lucien WL; Morling, Joanne R JR; Guha, Indra Neil IN; Barnes, Eleanor E; Ansari, M Azim MA; Quistrebert, Jocelyn J; Valenti, Luca L; Müller, Sascha A SA; Morgan, Marsha Yvonne MY; Dufour, Jean-François JF; Trebicka, Jonel J; Berg, Thomas T; Deltenre, Pierre P; Mueller, Sebastian S; Hampe, Jochen J; Stickel, Felix F
Publication Date: 2022-07-04

Variant appearance in text: rs2238675
PubMed Link: 35788059
Variant Present in the following documents:
  • gutjnl-2022-327196supp001.pdf
View BVdb publication page



Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.

Nature Communications
Nielsen, Jonas B JB; Rom, Oren O; Surakka, Ida I; Graham, Sarah E SE; Zhou, Wei W; Roychowdhury, Tanmoy T; Fritsche, Lars G LG; Gagliano Taliun, Sarah A SA; Sidore, Carlo C; Liu, Yuhao Y; Gabrielsen, Maiken E ME; Skogholt, Anne Heidi AH; Wolford, Brooke B; Overton, William W; Zhao, Ying Y; Chen, Jin J; Zhang, He H; Hornsby, Whitney E WE; Acheampong, Akua A; Grooms, Austen A; Schaefer, Amanda A; Zajac, Gregory J M GJM; Villacorta, Luis L; Zhang, Jifeng J; Brumpton, Ben B; Løset, Mari M; Rai, Vivek V; Lundegaard, Pia R PR; Olesen, Morten S MS; Taylor, Kent D KD; Palmer, Nicholette D ND; Chen, Yii-Der YD; Choi, Seung H SH; Lubitz, Steven A SA; Ellinor, Patrick T PT; Barnes, Kathleen C KC; Daya, Michelle M; Rafaels, Nicholas N; Weiss, Scott T ST; Lasky-Su, Jessica J; Tracy, Russell P RP; Vasan, Ramachandran S RS; Cupples, L Adrienne LA; Mathias, Rasika A RA; Yanek, Lisa R LR; Becker, Lewis C LC; Peyser, Patricia A PA; Bielak, Lawrence F LF; Smith, Jennifer A JA; Aslibekyan, Stella S; Hidalgo, Bertha A BA; Arnett, Donna K DK; Irvin, Marguerite R MR; Wilson, James G JG; Musani, Solomon K SK; Correa, Adolfo A; Rich, Stephen S SS; Guo, Xiuqing X; Rotter, Jerome I JI; Konkle, Barbara A BA; Johnsen, Jill M JM; Ashley-Koch, Allison E AE; Telen, Marilyn J MJ; Sheehan, Vivien A VA; Blangero, John J; Curran, Joanne E JE; Peralta, Juan M JM; Montgomery, Courtney C; Sheu, Wayne H-H WH; Chung, Ren-Hua RH; Schwander, Karen K; Nouraie, Seyed M SM; Gordeuk, Victor R VR; Zhang, Yingze Y; Kooperberg, Charles C; Reiner, Alexander P AP; Jackson, Rebecca D RD; Bleecker, Eugene R ER; Meyers, Deborah A DA; Li, Xingnan X; Das, Sayantan S; Yu, Ketian K; LeFaive, Jonathon J; Smith, Albert A; Blackwell, Tom T; Taliun, Daniel D; Zollner, Sebastian S; Forer, Lukas L; Schoenherr, Sebastian S; Fuchsberger, Christian C; Pandit, Anita A; Zawistowski, Matthew M; Kheterpal, Sachin S; Brummett, Chad M CM; Natarajan, Pradeep P; Schlessinger, David D; Lee, Seunggeun S; Kang, Hyun Min HM; Cucca, Francesco F; Holmen, Oddgeir L OL; Åsvold, Bjørn O BO; Boehnke, Michael M; Kathiresan, Sekar S; Abecasis, Goncalo R GR; Chen, Y Eugene YE; Willer, Cristen J CJ; Hveem, Kristian K
Publication Date: 2020-12-18

Variant appearance in text: rs2238675
PubMed Link: 33339817
Variant Present in the following documents:
  • 41467_2020_20086_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



A shared genetic contribution to breast cancer and schizophrenia.

Nature Communications
Lu, Donghao D; Song, Jie J; Lu, Yi Y; Fall, Katja K; Chen, Xu X; Fang, Fang F; Landén, Mikael M; Hultman, Christina M CM; Czene, Kamila K; Sullivan, Patrick P; Tamimi, Rulla M RM; Valdimarsdóttir, Unnur A UA
Publication Date: 2020-09-15

Variant appearance in text: rs2238675
PubMed Link: 32934226
Variant Present in the following documents:
  • 41467_2020_18492_MOESM1_ESM.pdf
View BVdb publication page



Association of the NCAN-TM6SF2-CILP2-PBX4-SUGP1-MAU2 SNPs and gene-gene and gene-environment interactions with serum lipid levels.

Aging
Deng, Guo-Xiong GX; Yin, Rui-Xing RX; Guan, Yao-Zong YZ; Liu, Chun-Xiao CX; Zheng, Peng-Fei PF; Wei, Bi-Liu BL; Wu, Jin-Zhen JZ; Miao, Liu L
Publication Date: 2020-06-22

Variant appearance in text: rs2238675
PubMed Link: 32568739
Variant Present in the following documents:
  • Main text
  • aging-12-103361-s001..pdf
  • aging-12-103361.pdf
View BVdb publication page



Meta-analysis of lipid-traits in Hispanics identifies novel loci, population-specific effects, and tissue-specific enrichment of eQTLs.

Scientific Reports
Below, Jennifer E JE; Parra, Esteban J EJ; Gamazon, Eric R ER; Torres, Jason J; Krithika, S S; Candille, Sophie S; Lu, Yingchang Y; Manichakul, Ani A; Peralta-Romero, Jesus J; Duan, Qing Q; Li, Yun Y; Morris, Andrew P AP; Gottesman, Omri O; Bottinger, Erwin E; Wang, Xin-Qun XQ; Taylor, Kent D KD; Ida Chen, Y-D YD; Rotter, Jerome I JI; Rich, Stephen S SS; Loos, Ruth J F RJ; Tang, Hua H; Cox, Nancy J NJ; Cruz, Miguel M; Hanis, Craig L CL; Valladares-Salgado, Adan A
Publication Date: 2016-01-19

Variant appearance in text: rs2238675
PubMed Link: 26780889
Variant Present in the following documents:
  • Main text
  • srep19429-s1.pdf
View BVdb publication page