EHD3 c.228-2311A>G

Variant ID: 2-31464829-A-G

NM_014600.2(EHD3):c.228-2311A>G

This variant was identified in 6 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: rs647316
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation.

Human Genetics
Longchamps, R J RJ; Yang, S Y SY; Castellani, C A CA; Shi, W W; Lane, J J; Grove, M L ML; Bartz, T M TM; Sarnowski, C C; Liu, C C; Burrows, K K; Guyatt, A L AL; Gaunt, T R TR; Kacprowski, T T; Yang, J J; De Jager, P L PL; Yu, L L; Bergman, A A; Xia, R R; Fornage, M M; Feitosa, M F MF; Wojczynski, M K MK; Kraja, A T AT; Province, M A MA; Amin, N N; Rivadeneira, F F; Tiemeier, H H; Uitterlinden, A G AG; Broer, L L; Van Meurs, J B J JBJ; Van Duijn, C M CM; Raffield, L M LM; Lange, L L; Rich, S S SS; Lemaitre, R N RN; Goodarzi, M O MO; Sitlani, C M CM; Mak, A C Y ACY; Bennett, D A DA; Rodriguez, S S; Murabito, J M JM; Lunetta, K L KL; Sotoodehnia, N N; Atzmon, G G; Ye, K K; Barzilai, N N; Brody, J A JA; Psaty, B M BM; Taylor, K D KD; Rotter, J I JI; Boerwinkle, E E; Pankratz, N N; Arking, D E DE
Publication Date: 2022-01

Variant appearance in text: rs647316
PubMed Link: 34859289
Variant Present in the following documents:
  • 439_2021_2394_MOESM3_ESM.xlsx, sheet 4
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: rs647316
PubMed Link: 24728292
Variant Present in the following documents:
  • NIHMS576016-supplement-1.pdf
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: rs647316
PubMed Link: 21738486
Variant Present in the following documents:
  • pgen.1002139.s016.pdf
View BVdb publication page



The genetics of normal platelet reactivity.

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

Variant appearance in text: rs647316
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: rs647316
PubMed Link: 19820697
Variant Present in the following documents:
  • Main text
View BVdb publication page