RERE c.1204-13078A>G

Variant ID: 1-8495945-T-C

NM_001042681.1(RERE):c.1204-13078A>G

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Association between cognitive function and large optic nerve cupping, accounting for cup-disc-ratio genetic risk score.

Plos One
Kravets, Sasha S; Rupnow, Rawan Allozi RA; Sethi, Abhishek A; Espeland, Mark A MA; Pasquale, Louis R LR; Rapp, Stephen R SR; Klein, Barbara E BE; Meuer, Stacy M SM; Haan, Mary N MN; Maki, Pauline M PM; Hallak, Joelle A JA; Vajaranant, Thasarat Sutabutr TS
Publication Date: 2022

Variant appearance in text: rs301801
PubMed Link: 36315511
Variant Present in the following documents:
  • Main text
  • pone.0258564.pdf
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Genetic Risk Score Is Associated with Vertical Cup-to-Disc Ratio and Improves Prediction of Primary Open-Angle Glaucoma in Latinos.

Ophthalmology
Nannini, Drew R DR; Kim, Heejin H; Fan, Fangda F; Gao, Xiaoyi X
Publication Date: 2018-06

Variant appearance in text: rs301801
PubMed Link: 29361357
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Genome-Wide Association Study of Vertical Cup-Disc Ratio in a Latino Population.

Investigative Ophthalmology & Visual Science
Nannini, Drew R DR; Torres, Mina M; Chen, Yii-Der I YI; Taylor, Kent D KD; Rotter, Jerome I JI; Varma, Rohit R; Gao, Xiaoyi X
Publication Date: 2017-01-01

Variant appearance in text: rs301801
PubMed Link: 28061514
Variant Present in the following documents:
  • Main text
  • i1552-5783-58-1-87.pdf
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Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.

Genetic Epidemiology
Springelkamp, Henriët H; Mishra, Aniket A; Hysi, Pirro G PG; Gharahkhani, Puya P; Höhn, René R; Khor, Chiea-Chuen CC; Cooke Bailey, Jessica N JN; Luo, Xiaoyan X; Ramdas, Wishal D WD; Vithana, Eranga E; Koh, Victor V; Yazar, Seyhan S; Xu, Liang L; Forward, Hannah H; Kearns, Lisa S LS; Amin, Najaf N; Iglesias, Adriana I AI; Sim, Kar-Seng KS; van Leeuwen, Elisabeth M EM; Demirkan, Ayse A; van der Lee, Sven S; Loon, Seng-Chee SC; Rivadeneira, Fernando F; Nag, Abhishek A; Sanfilippo, Paul G PG; Schillert, Arne A; de Jong, Paulus T V M PT; Oostra, Ben A BA; Uitterlinden, André G AG; Hofman, Albert A; , ; Zhou, Tiger T; Burdon, Kathryn P KP; Spector, Timothy D TD; Lackner, Karl J KJ; Saw, Seang-Mei SM; Vingerling, Johannes R JR; Teo, Yik-Ying YY; Pasquale, Louis R LR; Wolfs, Roger C W RC; Lemij, Hans G HG; Tai, E-Shyong ES; Jonas, Jost B JB; Cheng, Ching-Yu CY; Aung, Tin T; Jansonius, Nomdo M NM; Klaver, Caroline C W CC; Craig, Jamie E JE; Young, Terri L TL; Haines, Jonathan L JL; MacGregor, Stuart S; Mackey, David A DA; Pfeiffer, Norbert N; Wong, Tien-Yin TY; Wiggs, Janey L JL; Hewitt, Alex W AW; van Duijn, Cornelia M CM; Hammond, Christopher J CJ
Publication Date: 2015-03

Variant appearance in text: rs301801
PubMed Link: 25631615
Variant Present in the following documents:
  • Main text
View BVdb publication page



Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.

Nature Communications
Springelkamp, Henriët H; Höhn, René R; Mishra, Aniket A; Hysi, Pirro G PG; Khor, Chiea-Chuen CC; Loomis, Stephanie J SJ; Bailey, Jessica N Cooke JN; Gibson, Jane J; Thorleifsson, Gudmar G; Janssen, Sarah F SF; Luo, Xiaoyan X; Ramdas, Wishal D WD; Vithana, Eranga E; Nongpiur, Monisha E ME; Montgomery, Grant W GW; Xu, Liang L; Mountain, Jenny E JE; Gharahkhani, Puya P; Lu, Yi Y; Amin, Najaf N; Karssen, Lennart C LC; Sim, Kar-Seng KS; van Leeuwen, Elisabeth M EM; Iglesias, Adriana I AI; Verhoeven, Virginie J M VJ; Hauser, Michael A MA; Loon, Seng-Chee SC; Despriet, Dominiek D G DD; Nag, Abhishek A; Venturini, Cristina C; Sanfilippo, Paul G PG; Schillert, Arne A; Kang, Jae H JH; Landers, John J; Jonasson, Fridbert F; Cree, Angela J AJ; van Koolwijk, Leonieke M E LM; Rivadeneira, Fernando F; Souzeau, Emmanuelle E; Jonsson, Vesteinn V; Menon, Geeta G; , ; Weinreb, Robert N RN; de Jong, Paulus T V M PT; Oostra, Ben A BA; Uitterlinden, André G AG; Hofman, Albert A; Ennis, Sarah S; Thorsteinsdottir, Unnur U; Burdon, Kathryn P KP; , ; , ; Spector, Timothy D TD; Mirshahi, Alireza A; Saw, Seang-Mei SM; Vingerling, Johannes R JR; Teo, Yik-Ying YY; Haines, Jonathan L JL; Wolfs, Roger C W RC; Lemij, Hans G HG; Tai, E-Shyong ES; Jansonius, Nomdo M NM; Jonas, Jost B JB; Cheng, Ching-Yu CY; Aung, Tin T; Viswanathan, Ananth C AC; Klaver, Caroline C W CC; Craig, Jamie E JE; Macgregor, Stuart S; Mackey, David A DA; Lotery, Andrew J AJ; Stefansson, Kari K; Bergen, Arthur A B AA; Young, Terri L TL; Wiggs, Janey L JL; Pfeiffer, Norbert N; Wong, Tien-Yin TY; Pasquale, Louis R LR; Hewitt, Alex W AW; van Duijn, Cornelia M CM; Hammond, Christopher J CJ
Publication Date: 2014-09-22

Variant appearance in text: rs301801
PubMed Link: 25241763
Variant Present in the following documents:
  • ncomms5883.pdf
  • ncomms5883-s1.pdf
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Network-assisted investigation of combined causal signals from genome-wide association studies in schizophrenia.

Plos Computational Biology
Jia, Peilin P; Wang, Lily L; Fanous, Ayman H AH; Pato, Carlos N CN; Edwards, Todd L TL; , ; Zhao, Zhongming Z
Publication Date: 2012

Variant appearance in text: rs301801
PubMed Link: 22792057
Variant Present in the following documents:
  • Main text
  • pcbi.1002587.pdf
View BVdb publication page