IKZF1 c.161-15803C>A

Variant ID: 7-50428428-C-A

NM_006060.6(IKZF1):c.161-15803C>A

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Genetic associations of hemoglobin in children with chronic kidney disease in the PediGFR Consortium.

Pediatric Research
Atkinson, Meredith A MA; Xiao, Rui R; Köttgen, Anna A; Wühl, Elke E; Wong, Craig S CS; Wuttke, Matthias M; Bayazit, Aysun K AK; Çalişkan, Salim S; Warady, Bradley A BA; Schaefer, Franz F; Furth, Susan L SL
Publication Date: 2019-02

Variant appearance in text: rs12718597
PubMed Link: 30140068
Variant Present in the following documents:
  • Main text
  • nihms-1503134.pdf
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Dynamic Role of trans Regulation of Gene Expression in Relation to Complex Traits.

American Journal Of Human Genetics
Yao, Chen C; Joehanes, Roby R; Johnson, Andrew D AD; Huan, Tianxiao T; Liu, Chunyu C; Freedman, Jane E JE; Munson, Peter J PJ; Hill, David E DE; Vidal, Marc M; Levy, Daniel D
Publication Date: 2017-04-06

Variant appearance in text: rs12718597
PubMed Link: 28285768
Variant Present in the following documents:
  • Main text
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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: rs12718597
PubMed Link: 28122634
Variant Present in the following documents:
  • Main text
  • 13059_2016_Article_1142.pdf
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Understanding the epigenetic syntax for the genetic alphabet in the kidney.

Journal Of The American Society Of Nephrology : Jasn
Susztak, Katalin K
Publication Date: 2014-01

Variant appearance in text: rs12718597
PubMed Link: 24179169
Variant Present in the following documents:
  • Main text
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Systematic identification of trans eQTLs as putative drivers of known disease associations.

Nature Genetics
Westra, Harm-Jan HJ; Peters, Marjolein J MJ; Esko, Tõnu T; Yaghootkar, Hanieh H; Schurmann, Claudia C; Kettunen, Johannes J; Christiansen, Mark W MW; Fairfax, Benjamin P BP; Schramm, Katharina K; Powell, Joseph E JE; Zhernakova, Alexandra A; Zhernakova, Daria V DV; Veldink, Jan H JH; Van den Berg, Leonard H LH; Karjalainen, Juha J; Withoff, Sebo S; Uitterlinden, André G AG; Hofman, Albert A; Rivadeneira, Fernando F; Hoen, Peter A C 't PAC'; Reinmaa, Eva E; Fischer, Krista K; Nelis, Mari M; Milani, Lili L; Melzer, David D; Ferrucci, Luigi L; Singleton, Andrew B AB; Hernandez, Dena G DG; Nalls, Michael A MA; Homuth, Georg G; Nauck, Matthias M; Radke, Dörte D; Völker, Uwe U; Perola, Markus M; Salomaa, Veikko V; Brody, Jennifer J; Suchy-Dicey, Astrid A; Gharib, Sina A SA; Enquobahrie, Daniel A DA; Lumley, Thomas T; Montgomery, Grant W GW; Makino, Seiko S; Prokisch, Holger H; Herder, Christian C; Roden, Michael M; Grallert, Harald H; Meitinger, Thomas T; Strauch, Konstantin K; Li, Yang Y; Jansen, Ritsert C RC; Visscher, Peter M PM; Knight, Julian C JC; Psaty, Bruce M BM; Ripatti, Samuli S; Teumer, Alexander A; Frayling, Timothy M TM; Metspalu, Andres A; van Meurs, Joyce B J JBJ; Franke, Lude L
Publication Date: 2013-10

Variant appearance in text: rs12718597
PubMed Link: 24013639
Variant Present in the following documents:
  • Main text
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Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.

Plos Genetics
Lauc, Gordan G; Huffman, Jennifer E JE; Pučić, Maja M; Zgaga, Lina L; Adamczyk, Barbara B; Mužinić, Ana A; Novokmet, Mislav M; Polašek, Ozren O; Gornik, Olga O; Krištić, Jasminka J; Keser, Toma T; Vitart, Veronique V; Scheijen, Blanca B; Uh, Hae-Won HW; Molokhia, Mariam M; Patrick, Alan Leslie AL; McKeigue, Paul P; Kolčić, Ivana I; Lukić, Ivan Krešimir IK; Swann, Olivia O; van Leeuwen, Frank N FN; Ruhaak, L Renee LR; Houwing-Duistermaat, Jeanine J JJ; Slagboom, P Eline PE; Beekman, Marian M; de Craen, Anton J M AJ; Deelder, André M AM; Zeng, Qiang Q; Wang, Wei W; Hastie, Nicholas D ND; Gyllensten, Ulf U; Wilson, James F JF; Wuhrer, Manfred M; Wright, Alan F AF; Rudd, Pauline M PM; Hayward, Caroline C; Aulchenko, Yurii Y; Campbell, Harry H; Rudan, Igor I
Publication Date: 2013

Variant appearance in text: rs12718597
PubMed Link: 23382691
Variant Present in the following documents:
  • Main text
  • pgen.1003225.pdf
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Identification of biologically relevant enhancers in human erythroid cells.

The Journal Of Biological Chemistry
Su, Mack Y MY; Steiner, Laurie A LA; Bogardus, Hannah H; Mishra, Tejaswini T; Schulz, Vincent P VP; Hardison, Ross C RC; Gallagher, Patrick G PG
Publication Date: 2013-03-22

Variant appearance in text: rs12718597
PubMed Link: 23341446
Variant Present in the following documents:
  • Main text
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Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA.

Plos Genetics
Fehrmann, Rudolf S N RS; Jansen, Ritsert C RC; Veldink, Jan H JH; Westra, Harm-Jan HJ; Arends, Danny D; Bonder, Marc Jan MJ; Fu, Jingyuan J; Deelen, Patrick P; Groen, Harry J M HJ; Smolonska, Asia A; Weersma, Rinse K RK; Hofstra, Robert M W RM; Buurman, Wim A WA; Rensen, Sander S; Wolfs, Marcel G M MG; Platteel, Mathieu M; Zhernakova, Alexandra A; Elbers, Clara C CC; Festen, Eleanora M EM; Trynka, Gosia G; Hofker, Marten H MH; Saris, Christiaan G J CG; Ophoff, Roel A RA; van den Berg, Leonard H LH; van Heel, David A DA; Wijmenga, Cisca C; Te Meerman, Gerard J GJ; Franke, Lude L
Publication Date: 2011-08

Variant appearance in text: rs12718597
PubMed Link: 21829388
Variant Present in the following documents:
  • Main text
  • pgen.1002197.pdf
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Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

Nature Genetics
Ganesh, Santhi K SK; Zakai, Neil A NA; van Rooij, Frank J A FJ; Soranzo, Nicole N; Smith, Albert V AV; Nalls, Michael A MA; Chen, Ming-Huei MH; Kottgen, Anna A; Glazer, Nicole L NL; Dehghan, Abbas A; Kuhnel, Brigitte B; Aspelund, Thor T; Yang, Qiong Q; Tanaka, Toshiko T; Jaffe, Andrew A; Bis, Joshua C M JC; Verwoert, Germaine C GC; Teumer, Alexander A; Fox, Caroline S CS; Guralnik, Jack M JM; Ehret, Georg B GB; Rice, Kenneth K; Felix, Janine F JF; Rendon, Augusto A; Eiriksdottir, Gudny G; Levy, Daniel D; Patel, Kushang V KV; Boerwinkle, Eric E; Rotter, Jerome I JI; Hofman, Albert A; Sambrook, Jennifer G JG; Hernandez, Dena G DG; Zheng, Gang G; Bandinelli, Stefania S; Singleton, Andrew B AB; Coresh, Josef J; Lumley, Thomas T; Uitterlinden, André G AG; Vangils, Janine M JM; Launer, Lenore J LJ; Cupples, L Adrienne LA; Oostra, Ben A BA; Zwaginga, Jaap-Jan JJ; Ouwehand, Willem H WH; Thein, Swee-Lay SL; Meisinger, Christa C; Deloukas, Panos P; Nauck, Matthias M; Spector, Tim D TD; Gieger, Christian C; Gudnason, Vilmundur V; van Duijn, Cornelia M CM; Psaty, Bruce M BM; Ferrucci, Luigi L; Chakravarti, Aravinda A; Greinacher, Andreas A; O'Donnell, Christopher J CJ; Witteman, Jacqueline C M JC; Furth, Susan S; Cushman, Mary M; Harris, Tamara B TB; Lin, Jing-Ping JP
Publication Date: 2009-11

Variant appearance in text: rs12718597
PubMed Link: 19862010
Variant Present in the following documents:
  • Main text
  • nihms-145796.pdf
View BVdb publication page