GGCX c.44-67A>T

Variant ID: 2-85788175-T-A

NM_000821.5(GGCX):c.44-67A>T

This variant was identified in 23 publications

View GRCh38 version.




Publications:


Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-25

Variant appearance in text: rs7568458
PubMed Link: 36966136
Variant Present in the following documents:
  • 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2
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: rs7568458
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Genetic Factors for Coronary Heart Disease and Their Mechanisms: A Meta-Analysis and Comprehensive Review of Common Variants from Genome-Wide Association Studies.

Diagnostics (Basel, Switzerland)
Zarkasi, Khairul Anwar KA; Abdullah, Noraidatulakma N; Abdul Murad, Nor Azian NA; Ahmad, Norfazilah N; Jamal, Rahman R
Publication Date: 2022-10-21

Variant appearance in text: rs7568458
PubMed Link: 36292250
Variant Present in the following documents:
  • diagnostics-12-02561.pdf
View BVdb publication page



Etiologic Puzzle of Coronary Artery Disease: How Important Is Genetic Component?

Life (Basel, Switzerland)
Butnariu, Lăcrămioara Ionela LI; Florea, Laura L; Badescu, Minerva Codruta MC; Țarcă, Elena E; Costache, Irina-Iuliana II; Gorduza, Eusebiu Vlad EV
Publication Date: 2022-06-09

Variant appearance in text: rs7568458
PubMed Link: 35743896
Variant Present in the following documents:
  • life-12-00865.pdf
View BVdb publication page



Coronary Artery Disease and Atrial Fibrillation: A Bidirectional Mendelian Randomization Study.

Journal Of Cardiovascular Development And Disease
Yan, Tao T; Zhu, Shijie S; Xie, Changming C; Zhu, Miao M; Weng, Fan F; Wang, Chunsheng C; Guo, Changfa C
Publication Date: 2022-02-27

Variant appearance in text: rs7568458
PubMed Link: 35323617
Variant Present in the following documents:
  • Main text
  • jcdd-09-00069.pdf
View BVdb publication page



Polygenic risk scores predict diabetes complications and their response to intensive blood pressure and glucose control.

Diabetologia
Tremblay, Johanne J; Haloui, Mounsif M; Attaoua, Redha R; Tahir, Ramzan R; Hishmih, Camil C; Harvey, François F; Marois-Blanchet, François-Christophe FC; Long, Carole C; Simon, Paul P; Santucci, Lara L; Hizel, Candan C; Chalmers, John J; Marre, Michel M; Harrap, Stephen S; Cífková, Renata R; Krajčoviechová, Alena A; Matthews, David R DR; Williams, Bryan B; Poulter, Neil N; Zoungas, Sophia S; Colagiuri, Stephen S; Mancia, Giuseppe G; Grobbee, Diederick E DE; Rodgers, Anthony A; Liu, Liusheng L; Agbessi, Mawussé M; Bruat, Vanessa V; Favé, Marie-Julie MJ; Harwood, Michelle P MP; Awadalla, Philip P; Woodward, Mark M; Hussin, Julie G JG; Hamet, Pavel P
Publication Date: 2021-09

Variant appearance in text: rs7568458
PubMed Link: 34226943
Variant Present in the following documents:
  • 125_2021_5491_MOESM1_ESM.pdf
View BVdb publication page



Non-syndromic Cleft Palate: An Overview on Human Genetic and Environmental Risk Factors.

Frontiers In Cell And Developmental Biology
Martinelli, Marcella M; Palmieri, Annalisa A; Carinci, Francesco F; Scapoli, Luca L
Publication Date: 2020

Variant appearance in text: rs7568458
PubMed Link: 33195260
Variant Present in the following documents:
  • Main text
  • fcell-08-592271.pdf
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: rs7568458
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Genome-Wide Association Studies of Hypertension and Several Other Cardiovascular Diseases.

Pulse (Basel, Switzerland)
Wang, Yan Y; Wang, Ji-Guang JG
Publication Date: 2019-04

Variant appearance in text: rs7568458
PubMed Link: 31049317
Variant Present in the following documents:
  • Main text
View BVdb publication page



Learning from Longitudinal Data in Electronic Health Record and Genetic Data to Improve Cardiovascular Event Prediction.

Scientific Reports
Zhao, Juan J; Feng, QiPing Q; Wu, Patrick P; Lupu, Roxana A RA; Wilke, Russell A RA; Wells, Quinn S QS; Denny, Joshua C JC; Wei, Wei-Qi WQ
Publication Date: 2019-01-24

Variant appearance in text: rs7568458
PubMed Link: 30679510
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_36745.pdf
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: GGCX: 44-67A>T; rs7568458
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs7568458
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Genome-wide association meta-analysis of coronary artery disease and periodontitis reveals a novel shared risk locus.

Scientific Reports
Munz, Matthias M; Richter, Gesa M GM; Loos, Bruno G BG; Jepsen, Søren S; Divaris, Kimon K; Offenbacher, Steven S; Teumer, Alexander A; Holtfreter, Birte B; Kocher, Thomas T; Bruckmann, Corinna C; Jockel-Schneider, Yvonne Y; Graetz, Christian C; Munoz, Loreto L; Bhandari, Anita A; Tennstedt, Stephanie S; Staufenbiel, Ingmar I; van der Velde, Nathalie N; Uitterlinden, André G AG; de Groot, Lisette C P G M LCPGM; Wellmann, Jürgen J; Berger, Klaus K; Krone, Bastian B; Hoffmann, Per P; Laudes, Matthias M; Lieb, Wolfgang W; Franke, Andre A; Dommisch, Henrik H; Erdmann, Jeanette J; Schaefer, Arne S AS
Publication Date: 2018-09-12

Variant appearance in text: rs7568458
PubMed Link: 30209331
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_31980.pdf
View BVdb publication page



Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants.

Nature Communications
Dadaev, Tokhir T; Saunders, Edward J EJ; Newcombe, Paul J PJ; Anokian, Ezequiel E; Leongamornlert, Daniel A DA; Brook, Mark N MN; Cieza-Borrella, Clara C; Mijuskovic, Martina M; Wakerell, Sarah S; Olama, Ali Amin Al AAA; Schumacher, Fredrick R FR; Berndt, Sonja I SI; Benlloch, Sara S; Ahmed, Mahbubl M; Goh, Chee C; Sheng, Xin X; Zhang, Zhuo Z; Muir, Kenneth K; Govindasami, Koveela K; Lophatananon, Artitaya A; Stevens, Victoria L VL; Gapstur, Susan M SM; Carter, Brian D BD; Tangen, Catherine M CM; Goodman, Phyllis P; Thompson, Ian M IM; Batra, Jyotsna J; Chambers, Suzanne S; Moya, Leire L; Clements, Judith J; Horvath, Lisa L; Tilley, Wayne W; Risbridger, Gail G; Gronberg, Henrik H; Aly, Markus M; Nordström, Tobias T; Pharoah, Paul P; Pashayan, Nora N; Schleutker, Johanna J; Tammela, Teuvo L J TLJ; Sipeky, Csilla C; Auvinen, Anssi A; Albanes, Demetrius D; Weinstein, Stephanie S; Wolk, Alicja A; Hakansson, Niclas N; West, Catharine C; Dunning, Alison M AM; Burnet, Neil N; Mucci, Lorelei L; Giovannucci, Edward E; Andriole, Gerald G; Cussenot, Olivier O; Cancel-Tassin, Géraldine G; Koutros, Stella S; Freeman, Laura E Beane LEB; Sorensen, Karina Dalsgaard KD; Orntoft, Torben Falck TF; Borre, Michael M; Maehle, Lovise L; Grindedal, Eli Marie EM; Neal, David E DE; Donovan, Jenny L JL; Hamdy, Freddie C FC; Martin, Richard M RM; Travis, Ruth C RC; Key, Tim J TJ; Hamilton, Robert J RJ; Fleshner, Neil E NE; Finelli, Antonio A; Ingles, Sue Ann SA; Stern, Mariana C MC; Rosenstein, Barry B; Kerns, Sarah S; Ostrer, Harry H; Lu, Yong-Jie YJ; Zhang, Hong-Wei HW; Feng, Ninghan N; Mao, Xueying X; Guo, Xin X; Wang, Guomin G; Sun, Zan Z; Giles, Graham G GG; Southey, Melissa C MC; MacInnis, Robert J RJ; FitzGerald, Liesel M LM; Kibel, Adam S AS; Drake, Bettina F BF; Vega, Ana A; Gómez-Caamaño, Antonio A; Fachal, Laura L; Szulkin, Robert R; Eklund, Martin M; Kogevinas, Manolis M; Llorca, Javier J; Castaño-Vinyals, Gemma G; Penney, Kathryn L KL; Stampfer, Meir M; Park, Jong Y JY; Sellers, Thomas A TA; Lin, Hui-Yi HY; Stanford, Janet L JL; Cybulski, Cezary C; Wokolorczyk, Dominika D; Lubinski, Jan J; Ostrander, Elaine A EA; Geybels, Milan S MS; Nordestgaard, Børge G BG; Nielsen, Sune F SF; Weisher, Maren M; Bisbjerg, Rasmus R; Røder, Martin Andreas MA; Iversen, Peter P; Brenner, Hermann H; Cuk, Katarina K; Holleczek, Bernd B; Maier, Christiane C; Luedeke, Manuel M; Schnoeller, Thomas T; Kim, Jeri J; Logothetis, Christopher J CJ; John, Esther M EM; Teixeira, Manuel R MR; Paulo, Paula P; Cardoso, Marta M; Neuhausen, Susan L SL; Steele, Linda L; Ding, Yuan Chun YC; De Ruyck, Kim K; De Meerleer, Gert G; Ost, Piet P; Razack, Azad A; Lim, Jasmine J; Teo, Soo-Hwang SH; Lin, Daniel W DW; Newcomb, Lisa F LF; Lessel, Davor D; Gamulin, Marija M; Kulis, Tomislav T; Kaneva, Radka R; Usmani, Nawaid N; Slavov, Chavdar C; Mitev, Vanio V; Parliament, Matthew M; Singhal, Sandeep S; Claessens, Frank F; Joniau, Steven S; Van den Broeck, Thomas T; Larkin, Samantha S; Townsend, Paul A PA; Aukim-Hastie, Claire C; Gago-Dominguez, Manuela M; Castelao, Jose Esteban JE; Martinez, Maria Elena ME; Roobol, Monique J MJ; Jenster, Guido G; van Schaik, Ron H N RHN; Menegaux, Florence F; Truong, Thérèse T; Koudou, Yves Akoli YA; Xu, Jianfeng J; Khaw, Kay-Tee KT; Cannon-Albright, Lisa L; Pandha, Hardev H; Michael, Agnieszka A; Kierzek, Andrzej A; Thibodeau, Stephen N SN; McDonnell, Shannon K SK; Schaid, Daniel J DJ; Lindstrom, Sara S; Turman, Constance C; Ma, Jing J; Hunter, David J DJ; Riboli, Elio E; Siddiq, Afshan A; Canzian, Federico F; Kolonel, Laurence N LN; Le Marchand, Loic L; Hoover, Robert N RN; Machiela, Mitchell J MJ; Kraft, Peter P; , ; Freedman, Matthew M; Wiklund, Fredrik F; Chanock, Stephen S; Henderson, Brian E BE; Easton, Douglas F DF; Haiman, Christopher A CA; Eeles, Rosalind A RA; Conti, David V DV; Kote-Jarai, Zsofia Z
Publication Date: 2018-06-11

Variant appearance in text: rs7568458
PubMed Link: 29892050
Variant Present in the following documents:
  • 41467_2018_4109_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Novel risk genes identified in a genome-wide association study for coronary artery disease in patients with type 1 diabetes.

Cardiovascular Diabetology
Charmet, Romain R; Duffy, Seamus S; Keshavarzi, Sareh S; Gyorgy, Beata B; Marre, Michel M; Rossing, Peter P; McKnight, Amy Jayne AJ; Maxwell, Alexander P AP; Ahluwalia, Tarun Veer Singh TVS; Paterson, Andrew D AD; Trégouët, David-Alexandre DA; Hadjadj, Samy S
Publication Date: 2018-04-25

Variant appearance in text: rs7568458
PubMed Link: 29695241
Variant Present in the following documents:
  • Main text
  • 12933_2018_Article_705.pdf
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs7568458
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



The Genetic Architecture of Coronary Artery Disease: Current Knowledge and Future Opportunities.

Current Atherosclerosis Reports
Hartiala, Jaana J; Schwartzman, William S WS; Gabbay, Julian J; Ghazalpour, Anatole A; Bennett, Brian J BJ; Allayee, Hooman H
Publication Date: 2017-02

Variant appearance in text: rs7568458
PubMed Link: 28130654
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrated genome-wide analysis of expression quantitative trait loci aids interpretation of genomic association studies.

Genome Biology
Joehanes, Roby R; Zhang, Xiaoling X; Huan, Tianxiao T; Yao, Chen C; Ying, Sai-Xia SX; Nguyen, Quang Tri QT; Demirkale, Cumhur Yusuf CY; Feolo, Michael L ML; Sharopova, Nataliya R NR; Sturcke, Anne A; Schäffer, Alejandro A AA; Heard-Costa, Nancy N; Chen, Han H; Liu, Po-Ching PC; Wang, Richard R; Woodhouse, Kimberly A KA; Tanriverdi, Kahraman K; Freedman, Jane E JE; Raghavachari, Nalini N; Dupuis, Josée J; Johnson, Andrew D AD; O'Donnell, Christopher J CJ; Levy, Daniel D; Munson, Peter J PJ
Publication Date: 2017-01-25

Variant appearance in text: rs7568458
PubMed Link: 28122634
Variant Present in the following documents:
  • Main text
  • 13059_2016_1142_MOESM1_ESM.pdf
  • 13059_2016_Article_1142.pdf
View BVdb publication page



From Loci to Biology: Functional Genomics of Genome-Wide Association for Coronary Disease.

Circulation Research
Nurnberg, Sylvia T ST; Zhang, Hanrui H; Hand, Nicholas J NJ; Bauer, Robert C RC; Saleheen, Danish D; Reilly, Muredach P MP; Rader, Daniel J DJ
Publication Date: 2016-02-19

Variant appearance in text: rs7568458
PubMed Link: 26892960
Variant Present in the following documents:
  • Main text
View BVdb publication page



New genetic variant that might improve warfarin dose prediction in African Americans.

British Journal Of Clinical Pharmacology
Schelleman, Hedi H; Brensinger, Colleen M CM; Chen, Jinbo J; Finkelman, Brian S BS; Rieder, Mark J MJ; Kimmel, Stephen E SE
Publication Date: 2010-09

Variant appearance in text: rs7568458
PubMed Link: 20716240
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of sequence variations in vitamin K epoxide reductase and gamma-glutamyl carboxylase genes with biochemical measures of vitamin K status.

Journal Of Nutritional Science And Vitaminology
Crosier, Michael D MD; Peter, Inga I; Booth, Sarah L SL; Bennett, Grace G; Dawson-Hughes, Bess B; Ordovas, Jose M JM
Publication Date: 2009-04

Variant appearance in text: rs7568458
PubMed Link: 19436136
Variant Present in the following documents:
  • Main text
View BVdb publication page



The largest prospective warfarin-treated cohort supports genetic forecasting.

Blood
Wadelius, Mia M; Chen, Leslie Y LY; Lindh, Jonatan D JD; Eriksson, Niclas N; Ghori, Mohammed J R MJ; Bumpstead, Suzannah S; Holm, Lennart L; McGinnis, Ralph R; Rane, Anders A; Deloukas, Panos P
Publication Date: 2009-01-22

Variant appearance in text: rs7568458
PubMed Link: 18574025
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of warfarin dose with genes involved in its action and metabolism.

Human Genetics
Wadelius, Mia M; Chen, Leslie Y LY; Eriksson, Niclas N; Bumpstead, Suzannah S; Ghori, Jilur J; Wadelius, Claes C; Bentley, David D; McGinnis, Ralph R; Deloukas, Panos P
Publication Date: 2007-03

Variant appearance in text: rs7568458
PubMed Link: 17048007
Variant Present in the following documents:
View BVdb publication page