DNM3 c.236-7046T>C

Variant ID: 1-171949750-T-C

NM_015569.4(DNM3):c.236-7046T>C

This variant was identified in 11 publications

View GRCh38 version.




Publications:


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: rs10914144
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Cytokine pathway variants modulate platelet production: IFNA16 is a thrombocytosis susceptibility locus in humans.

Blood Advances
Gnatenko, Dmitri V DV; Liu, Zhaoyan Z; Hearing, Patrick P; Sohn, Sook-Young SY; Hu, Yetao Y; Falanga, Anna A; Wu, Song S; Malone, Lisa E LE; Zhu, Wei W; Bahou, Wadie F WF
Publication Date: 2022-08-23

Variant appearance in text: rs10914144
PubMed Link: 35381074
Variant Present in the following documents:
  • advancesADV2021005648-suppl1.pdf
View BVdb publication page



From GWAS to function: lessons from blood cells.

Isbt Science Series
Vasquez, L J LJ; Mann, A L AL; Chen, L L; Soranzo, N N
Publication Date: 2016-01

Variant appearance in text: rs10914144
PubMed Link: 27347004
Variant Present in the following documents:
  • Main text
  • VOXS-11-211.pdf
View BVdb publication page



Exon-focused genome-wide association study of obsessive-compulsive disorder and shared polygenic risk with schizophrenia.

Translational Psychiatry
Costas, J J; Carrera, N N; Alonso, P P; Gurriarán, X X; Segalàs, C C; Real, E E; López-Solà, C C; Mas, S S; Gassó, P P; Domènech, L L; Morell, M M; Quintela, I I; Lázaro, L L; Menchón, J M JM; Estivill, X X; Carracedo, Á Á
Publication Date: 2016-03-29

Variant appearance in text: rs10914144
PubMed Link: 27023174
Variant Present in the following documents:
  • Main text
  • tp201634a.pdf
View BVdb publication page



Heritability and genomics of gene expression in peripheral blood.

Nature Genetics
Wright, Fred A FA; Sullivan, Patrick F PF; Brooks, Andrew I AI; Zou, Fei F; Sun, Wei W; Xia, Kai K; Madar, Vered V; Jansen, Rick R; Chung, Wonil W; Zhou, Yi-Hui YH; Abdellaoui, Abdel A; Batista, Sandra S; Butler, Casey C; Chen, Guanhua G; Chen, Ting-Huei TH; D'Ambrosio, David D; Gallins, Paul P; Ha, Min Jin MJ; Hottenga, Jouke Jan JJ; Huang, Shunping S; Kattenberg, Mathijs M; Kochar, Jaspreet J; Middeldorp, Christel M CM; Qu, Ani A; Shabalin, Andrey A; Tischfield, Jay J; Todd, Laura L; Tzeng, Jung-Ying JY; van Grootheest, Gerard G; Vink, Jacqueline M JM; Wang, Qi Q; Wang, Wei W; Wang, Weibo W; Willemsen, Gonneke G; Smit, Johannes H JH; de Geus, Eco J EJ; Yin, Zhaoyu Z; Penninx, Brenda W J H BW; Boomsma, Dorret I DI
Publication Date: 2014-05

Variant appearance in text: rs10914144
PubMed Link: 24728292
Variant Present in the following documents:
  • NIHMS576016-supplement-1.pdf
View BVdb publication page



A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.

Human Genetics
Shameer, Khader K; Denny, Joshua C JC; Ding, Keyue K; Jouni, Hayan H; Crosslin, David R DR; de Andrade, Mariza M; Chute, Christopher G CG; Peissig, Peggy P; Pacheco, Jennifer A JA; Li, Rongling R; Bastarache, Lisa L; Kho, Abel N AN; Ritchie, Marylyn D MD; Masys, Daniel R DR; Chisholm, Rex L RL; Larson, Eric B EB; McCarty, Catherine A CA; Roden, Dan M DM; Jarvik, Gail P GP; Kullo, Iftikhar J IJ
Publication Date: 2014-01

Variant appearance in text: rs10914144
PubMed Link: 24026423
Variant Present in the following documents:
  • Main text
View BVdb publication page



A GWAS sequence variant for platelet volume marks an alternative DNM3 promoter in megakaryocytes near a MEIS1 binding site.

Blood
Nürnberg, Sylvia T ST; Rendon, Augusto A; Smethurst, Peter A PA; Paul, Dirk S DS; Voss, Katrin K; Thon, Jonathan N JN; Lloyd-Jones, Heather H; Sambrook, Jennifer G JG; Tijssen, Marloes R MR; , ; Italiano, Joseph E JE; Deloukas, Panos P; Gottgens, Berthold B; Soranzo, Nicole N; Ouwehand, Willem H WH
Publication Date: 2012-12-06

Variant appearance in text: rs10914144
PubMed Link: 22972982
Variant Present in the following documents:
  • Main text
View BVdb publication page



Maps of open chromatin guide the functional follow-up of genome-wide association signals: application to hematological traits.

Plos Genetics
Paul, Dirk S DS; Nisbet, James P JP; Yang, Tsun-Po TP; Meacham, Stuart S; Rendon, Augusto A; Hautaviita, Katta K; Tallila, Jonna J; White, Jacqui J; Tijssen, Marloes R MR; Sivapalaratnam, Suthesh S; Basart, Hanneke H; Trip, Mieke D MD; , ; , ; Göttgens, Berthold B; Soranzo, Nicole N; Ouwehand, Willem H WH; Deloukas, Panos P
Publication Date: 2011-06

Variant appearance in text: rs10914144
PubMed Link: 21738486
Variant Present in the following documents:
  • Main text
  • pgen.1002139.pdf
  • pgen.1002139.s016.pdf
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The genetics of normal platelet reactivity.

Blood
Kunicki, Thomas J TJ; Nugent, Diane J DJ
Publication Date: 2010-10-14

Variant appearance in text: rs10914144
PubMed Link: 20610812
Variant Present in the following documents:
  • Main text
View BVdb publication page



A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.

Nature Genetics
Soranzo, Nicole N; Spector, Tim D TD; Mangino, Massimo M; Kühnel, Brigitte B; Rendon, Augusto A; Teumer, Alexander A; Willenborg, Christina C; Wright, Benjamin B; Chen, Li L; Li, Mingyao M; Salo, Perttu P; Voight, Benjamin F BF; Burns, Philippa P; Laskowski, Roman A RA; Xue, Yali Y; Menzel, Stephan S; Altshuler, David D; Bradley, John R JR; Bumpstead, Suzannah S; Burnett, Mary-Susan MS; Devaney, Joseph J; Döring, Angela A; Elosua, Roberto R; Epstein, Stephen E SE; Erber, Wendy W; Falchi, Mario M; Garner, Stephen F SF; Ghori, Mohammed J R MJ; Goodall, Alison H AH; Gwilliam, Rhian R; Hakonarson, Hakon H HH; Hall, Alistair S AS; Hammond, Naomi N; Hengstenberg, Christian C; Illig, Thomas T; König, Inke R IR; Knouff, Christopher W CW; McPherson, Ruth R; Melander, Olle O; Mooser, Vincent V; Nauck, Matthias M; Nieminen, Markku S MS; O'Donnell, Christopher J CJ; Peltonen, Leena L; Potter, Simon C SC; Prokisch, Holger H; Rader, Daniel J DJ; Rice, Catherine M CM; Roberts, Robert R; Salomaa, Veikko V; Sambrook, Jennifer J; Schreiber, Stefan S; Schunkert, Heribert H; Schwartz, Stephen M SM; Serbanovic-Canic, Jovana J; Sinisalo, Juha J; Siscovick, David S DS; Stark, Klaus K; Surakka, Ida I; Stephens, Jonathan J; Thompson, John R JR; Völker, Uwe U; Völzke, Henry H; Watkins, Nicholas A NA; Wells, George A GA; Wichmann, H-Erich HE; Van Heel, David A DA; Tyler-Smith, Chris C; Thein, Swee Lay SL; Kathiresan, Sekar S; Perola, Markus M; Reilly, Muredach P MP; Stewart, Alexandre F R AF; Erdmann, Jeanette J; Samani, Nilesh J NJ; Meisinger, Christa C; Greinacher, Andreas A; Deloukas, Panos P; Ouwehand, Willem H WH; Gieger, Christian C
Publication Date: 2009-11

Variant appearance in text: rs10914144
PubMed Link: 19820697
Variant Present in the following documents:
  • Main text
View BVdb publication page