ELL2 c.955-277G>A

Variant ID: 5-95234791-C-T

NM_012081.5(ELL2):c.955-277G>A

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: ELL2: 955-277G>A; rs3777200
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page



Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma.

Nature Communications
Swaminathan, Bhairavi B; Thorleifsson, Guðmar G; Jöud, Magnus M; Ali, Mina M; Johnsson, Ellinor E; Ajore, Ram R; Sulem, Patrick P; Halvarsson, Britt-Marie BM; Eyjolfsson, Guðmundur G; Haraldsdottir, Vilhelmina V; Hultman, Christina C; Ingelsson, Erik E; Kristinsson, Sigurður Y SY; Kähler, Anna K AK; Lenhoff, Stig S; Masson, Gisli G; Mellqvist, Ulf-Henrik UH; Månsson, Robert R; Nelander, Sven S; Olafsson, Isleifur I; Sigurðardottir, Olof O; Steingrimsdóttir, Hlif H; Vangsted, Annette A; Vogel, Ulla U; Waage, Anders A; Nahi, Hareth H; Gudbjartsson, Daniel F DF; Rafnar, Thorunn T; Turesson, Ingemar I; Gullberg, Urban U; Stefánsson, Kári K; Hansson, Markus M; Thorsteinsdóttir, Unnur U; Nilsson, Björn B
Publication Date: 2015-05-26

Variant appearance in text: rs3777200
PubMed Link: 26007630
Variant Present in the following documents:
  • Main text
  • ncomms8213.pdf
View BVdb publication page



Discovery and fine mapping of serum protein loci through transethnic meta-analysis.

American Journal Of Human Genetics
Franceschini, Nora N; van Rooij, Frank J A FJ; Prins, Bram P BP; Feitosa, Mary F MF; Karakas, Mahir M; Eckfeldt, John H JH; Folsom, Aaron R AR; Kopp, Jeffrey J; Vaez, Ahmad A; Andrews, Jeanette S JS; Baumert, Jens J; Boraska, Vesna V; Broer, Linda L; Hayward, Caroline C; Ngwa, Julius S JS; Okada, Yukinori Y; Polasek, Ozren O; Westra, Harm-Jan HJ; Wang, Ying A YA; Del Greco M, Fabiola F; Glazer, Nicole L NL; Kapur, Karen K; Kema, Ido P IP; Lopez, Lorna M LM; Schillert, Arne A; Smith, Albert V AV; Winkler, Cheryl A CA; Zgaga, Lina L; , ; Bandinelli, Stefania S; Bergmann, Sven S; Boban, Mladen M; Bochud, Murielle M; Chen, Y D YD; Davies, Gail G; Dehghan, Abbas A; Ding, Jingzhong J; Doering, Angela A; Durda, J Peter JP; Ferrucci, Luigi L; Franco, Oscar H OH; Franke, Lude L; Gunjaca, Grog G; Hofman, Albert A; Hsu, Fang-Chi FC; Kolcic, Ivana I; Kraja, Aldi A; Kubo, Michiaki M; Lackner, Karl J KJ; Launer, Lenore L; Loehr, Laura R LR; Li, Guo G; Meisinger, Christa C; Nakamura, Yusuke Y; Schwienbacher, Christine C; Starr, John M JM; Takahashi, Atsushi A; Torlak, Vesela V; Uitterlinden, André G AG; Vitart, Veronique V; Waldenberger, Melanie M; Wild, Philipp S PS; Kirin, Mirna M; Zeller, Tanja T; Zemunik, Tatijana T; Zhang, Qunyuan Q; Ziegler, Andreas A; Blankenberg, Stefan S; Boerwinkle, Eric E; Borecki, Ingrid B IB; Campbell, Harry H; Deary, Ian J IJ; Frayling, Timothy M TM; Gieger, Christian C; Harris, Tamara B TB; Hicks, Andrew A AA; Koenig, Wolfgang W; O' Donnell, Christopher J CJ; Fox, Caroline S CS; Pramstaller, Peter P PP; Psaty, Bruce M BM; Reiner, Alex P AP; Rotter, Jerome I JI; Rudan, Igor I; Snieder, Harold H; Tanaka, Toshihiro T; van Duijn, Cornelia M CM; Vollenweider, Peter P; Waeber, Gerard G; Wilson, James F JF; Witteman, Jacqueline C M JC; Wolffenbuttel, Bruce H R BH; Wright, Alan F AF; Wu, Qingyu Q; Liu, Yongmei Y; Jenny, Nancy S NS; North, Kari E KE; Felix, Janine F JF; Alizadeh, Behrooz Z BZ; Cupples, L Adrienne LA; Perry, John R B JR; Morris, Andrew P AP
Publication Date: 2012-10-05

Variant appearance in text: rs3777200
PubMed Link: 23022100
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variations in discovery-based preeclampsia candidate genes.

Clinical And Translational Science
Founds, Sandra A SA; Shi, Haiwen H; Conley, Yvette P YP; Jeyabalan, Arun A; Roberts, James M JM; Lyons-Weiler, James J
Publication Date: 2012-08

Variant appearance in text: rs3777200
PubMed Link: 22883611
Variant Present in the following documents:
  • Main text
View BVdb publication page