F7 c.740-20G>A

Variant ID: 13-113772707-G-A

NM_019616.3(F7):c.740-20G>A

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs6041
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: rs6041
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
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: rs6041
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Associations between SNPs and immune-related circulating proteins in schizophrenia.

Scientific Reports
Chan, Man K MK; Cooper, Jason D JD; Heilmann-Heimbach, Stefanie S; Frank, Josef J; Witt, Stephanie H SH; Nöthen, Markus M MM; Steiner, Johann J; Rietschel, Marcella M; Bahn, Sabine S
Publication Date: 2017-10-03

Variant appearance in text: rs6041
PubMed Link: 28974776
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_12986.pdf
View BVdb publication page



Continuity and Admixture in the Last Five Millennia of Levantine History from Ancient Canaanite and Present-Day Lebanese Genome Sequences.

American Journal Of Human Genetics
Haber, Marc M; Doumet-Serhal, Claude C; Scheib, Christiana C; Xue, Yali Y; Danecek, Petr P; Mezzavilla, Massimo M; Youhanna, Sonia S; Martiniano, Rui R; Prado-Martinez, Javier J; Szpak, Michał M; Matisoo-Smith, Elizabeth E; Schutkowski, Holger H; Mikulski, Richard R; Zalloua, Pierre P; Kivisild, Toomas T; Tyler-Smith, Chris C
Publication Date: 2017-08-03

Variant appearance in text: rs6041
PubMed Link: 28757201
Variant Present in the following documents:
  • mmc1.pdf
  • mmc2.pdf
View BVdb publication page



Can Genetic Analysis of Putative Blood Alzheimer's Disease Biomarkers Lead to Identification of Susceptibility Loci?

Plos One
Barber, Robert C RC; Phillips, Nicole R NR; Tilson, Jeffrey L JL; Huebinger, Ryan M RM; Shewale, Shantanu J SJ; Koenig, Jessica L JL; Mitchel, Jeffrey S JS; O'Bryant, Sid E SE; Waring, Stephen C SC; Diaz-Arrastia, Ramon R; Chasse, Scott S; Wilhelmsen, Kirk C KC; , ; ,
Publication Date: 2015

Variant appearance in text: rs6041
PubMed Link: 26625115
Variant Present in the following documents:
  • Main text
  • pone.0142360.pdf
View BVdb publication page



Linking the genetic architecture of cytosine modifications with human complex traits.

Human Molecular Genetics
Zhang, Xu X; Moen, Erika L EL; Liu, Cong C; Mu, Wenbo W; Gamazon, Eric R ER; Delaney, Shannon M SM; Wing, Claudia C; Godley, Lucy A LA; Dolan, M Eileen ME; Zhang, Wei W
Publication Date: 2014-11-15

Variant appearance in text: rs6041
PubMed Link: 24943591
Variant Present in the following documents:
  • Main text
View BVdb publication page



Gene-centric association signals for haemostasis and thrombosis traits identified with the HumanCVD BeadChip.

Thrombosis And Haemostasis
Gaunt, Tom R TR; Zabaneh, Delilah D; Shah, Sonia S; Guyatt, Anna A; Ladroue, Christophe C; Kumari, Meena M; Drenos, Fotios F; Shah, Tina T; Talmud, Philippa J PJ; Casas, Juan Pablo JP; Lowe, Gordon G; Rumley, Ann A; Lawlor, Debbie A DA; Kivimaki, Mika M; Whittaker, John J; Hingorani, Aroon D AD; Humphries, Steve E SE; Day, Ian N IN
Publication Date: 2013-11

Variant appearance in text: rs6041
PubMed Link: 24178511
Variant Present in the following documents:
  • Main text
View BVdb publication page



Ischemic stroke is associated with the ABO locus: the EuroCLOT study.

Annals Of Neurology
Williams, Frances M K FM; Carter, Angela M AM; Hysi, Pirro G PG; Surdulescu, Gabriela G; Hodgkiss, Dylan D; Soranzo, Nicole N; Traylor, Matthew M; Bevan, Steve S; Dichgans, Martin M; Rothwell, Peter M W PM; Sudlow, Cathie C; Farrall, Martin M; Silander, Kaisa K; Kaunisto, Mari M; Wagner, Peter P; Saarela, Olli O; Kuulasmaa, Kari K; Virtamo, Jarmo J; Salomaa, Veikko V; Amouyel, Philippe P; Arveiler, Dominique D; Ferrieres, Jean J; Wiklund, Per-Gunnar PG; Ikram, M Arfan MA; Hofman, Albert A; Boncoraglio, Giorgio B GB; Parati, Eugenio A EA; Helgadottir, Anna A; Gretarsdottir, Solveig S; Thorsteinsdottir, Unnur U; Thorleifsson, Gudmar G; Stefansson, Kari K; Seshadri, Sudha S; DeStefano, Anita A; Gschwendtner, Andreas A; Psaty, Bruce B; Longstreth, Will W; Mitchell, Braxton D BD; Cheng, Yu-Ching YC; Clarke, Robert R; Ferrario, Marco M; Bis, Joshua C JC; Levi, Christopher C; Attia, John J; Holliday, Elizabeth G EG; Scott, Rodney J RJ; Fornage, Myriam M; Sharma, Pankaj P; Furie, Karen L KL; Rosand, Jonathan J; Nalls, Mike M; Meschia, James J; Mosely, Thomas H TH; Evans, Alun A; Palotie, Aarno A; Markus, Hugh S HS; Grant, Peter J PJ; Spector, Tim D TD; , ; , ; , ; , ; ,
Publication Date: 2013-01

Variant appearance in text: rs6041
PubMed Link: 23381943
Variant Present in the following documents:
  • ana0073-0016.pdf
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: rs6041
PubMed Link: 17048007
Variant Present in the following documents:
View BVdb publication page