ELL2 c.196-475T>C

Variant ID: 5-95255724-A-G

NM_012081.5(ELL2):c.196-475T>C

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Functional dissection of inherited non-coding variation influencing multiple myeloma risk.

Nature Communications
Ajore, Ram R; Niroula, Abhishek A; Pertesi, Maroulio M; Cafaro, Caterina C; Thodberg, Malte M; Went, Molly M; Bao, Erik L EL; Duran-Lozano, Laura L; Lopez de Lapuente Portilla, Aitzkoa A; Olafsdottir, Thorunn T; Ugidos-Damboriena, Nerea N; Magnusson, Olafur O; Samur, Mehmet M; Lareau, Caleb A CA; Halldorsson, Gisli H GH; Thorleifsson, Gudmar G; Norddahl, Gudmundur L GL; Gunnarsdottir, Kristbjorg K; Försti, Asta A; Goldschmidt, Hartmut H; Hemminki, Kari K; van Rhee, Frits F; Kimber, Scott S; Sperling, Adam S AS; Kaiser, Martin M; Anderson, Kenneth K; Jonsdottir, Ingileif I; Munshi, Nikhil N; Rafnar, Thorunn T; Waage, Anders A; Weinhold, Niels N; Thorsteinsdottir, Unnur U; Sankaran, Vijay G VG; Stefansson, Kari K; Houlston, Richard R; Nilsson, Björn B
Publication Date: 2022-01-10

Variant appearance in text: rs1423269
PubMed Link: 35013207
Variant Present in the following documents:
  • 41467_2021_27666_MOESM1_ESM.pdf
View BVdb publication page



Functional dissection of inherited non-coding variation influencing multiple myeloma risk.

Nature Communications
Ajore, Ram R; Niroula, Abhishek A; Pertesi, Maroulio M; Cafaro, Caterina C; Thodberg, Malte M; Went, Molly M; Bao, Erik L EL; Duran-Lozano, Laura L; Lopez de Lapuente Portilla, Aitzkoa A; Olafsdottir, Thorunn T; Ugidos-Damboriena, Nerea N; Magnusson, Olafur O; Samur, Mehmet M; Lareau, Caleb A CA; Halldorsson, Gisli H GH; Thorleifsson, Gudmar G; Norddahl, Gudmundur L GL; Gunnarsdottir, Kristbjorg K; Försti, Asta A; Goldschmidt, Hartmut H; Hemminki, Kari K; van Rhee, Frits F; Kimber, Scott S; Sperling, Adam S AS; Kaiser, Martin M; Anderson, Kenneth K; Jonsdottir, Ingileif I; Munshi, Nikhil N; Rafnar, Thorunn T; Waage, Anders A; Weinhold, Niels N; Thorsteinsdottir, Unnur U; Sankaran, Vijay G VG; Stefansson, Kari K; Houlston, Richard R; Nilsson, Björn B
Publication Date: 2022-01-10

Variant appearance in text: rs1423269
PubMed Link: 35013207
Variant Present in the following documents:
  • 41467_2021_27666_MOESM1_ESM.pdf
View BVdb publication page



Coinherited genetics of multiple myeloma and its precursor, monoclonal gammopathy of undetermined significance.

Blood Advances
Clay-Gilmour, Alyssa I AI; Hildebrandt, Michelle A T MAT; Brown, Elizabeth E EE; Hofmann, Jonathan N JN; Spinelli, John J JJ; Giles, Graham G GG; Cozen, Wendy W; Bhatti, Parveen P; Wu, Xifeng X; Waller, Rosalie G RG; Belachew, Alem A AA; Robinson, Dennis P DP; Norman, Aaron D AD; Sinnwell, Jason P JP; Berndt, Sonja I SI; Rajkumar, S Vincent SV; Kumar, Shaji K SK; Chanock, Stephen J SJ; Machiela, Mitchell J MJ; Milne, Roger L RL; Slager, Susan L SL; Camp, Nicola J NJ; Ziv, Elad E; Vachon, Celine M CM
Publication Date: 2020-06-23

Variant appearance in text: rs1423269
PubMed Link: 32569378
Variant Present in the following documents:
  • Main text
View BVdb publication page



A meta-analysis of genome-wide association studies of multiple myeloma among men and women of African ancestry.

Blood Advances
Du, Zhaohui Z; Weinhold, Niels N; Song, Gregory Chi GC; Rand, Kristin A KA; Van Den Berg, David J DJ; Hwang, Amie E AE; Sheng, Xin X; Hom, Victor V; Ailawadhi, Sikander S; Nooka, Ajay K AK; Singhal, Seema S; Pawlish, Karen K; Peters, Edward S ES; Bock, Cathryn C; Mohrbacher, Ann A; Stram, Alexander A; Berndt, Sonja I SI; Blot, William J WJ; Casey, Graham G; Stevens, Victoria L VL; Kittles, Rick R; Goodman, Phyllis J PJ; Diver, W Ryan WR; Hennis, Anselm A; Nemesure, Barbara B; Klein, Eric A EA; Rybicki, Benjamin A BA; Stanford, Janet L JL; Witte, John S JS; Signorello, Lisa L; John, Esther M EM; Bernstein, Leslie L; Stroup, Antoinette M AM; Stephens, Owen W OW; Zangari, Maurizio M; Van Rhee, Frits F; Olshan, Andrew A; Zheng, Wei W; Hu, Jennifer J JJ; Ziegler, Regina R; Nyante, Sarah J SJ; Ingles, Sue Ann SA; Press, Michael F MF; Carpten, John David JD; Chanock, Stephen J SJ; Mehta, Jayesh J; Colditz, Graham A GA; Wolf, Jeffrey J; Martin, Thomas G TG; Tomasson, Michael M; Fiala, Mark A MA; Terebelo, Howard H; Janakiraman, Nalini N; Kolonel, Laurence L; Anderson, Kenneth C KC; Le Marchand, Loic L; Auclair, Daniel D; Chiu, Brian C-H BC; Ziv, Elad E; Stram, Daniel D; Vij, Ravi R; Bernal-Mizrachi, Leon L; Morgan, Gareth J GJ; Zonder, Jeffrey A JA; Huff, Carol Ann CA; Lonial, Sagar S; Orlowski, Robert Z RZ; Conti, David V DV; Haiman, Christopher A CA; Cozen, Wendy W
Publication Date: 2020-01-14

Variant appearance in text: rs1423269
PubMed Link: 31935283
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of multiple risk loci and regulatory mechanisms influencing susceptibility to multiple myeloma.

Nature Communications
Went, Molly M; Sud, Amit A; Försti, Asta A; Halvarsson, Britt-Marie BM; Weinhold, Niels N; Kimber, Scott S; van Duin, Mark M; Thorleifsson, Gudmar G; Holroyd, Amy A; Johnson, David C DC; Li, Ni N; Orlando, Giulia G; Law, Philip J PJ; Ali, Mina M; Chen, Bowang B; Mitchell, Jonathan S JS; Gudbjartsson, Daniel F DF; Kuiper, Rowan R; Stephens, Owen W OW; Bertsch, Uta U; Broderick, Peter P; Campo, Chiara C; Bandapalli, Obul R OR; Einsele, Hermann H; Gregory, Walter A WA; Gullberg, Urban U; Hillengass, Jens J; Hoffmann, Per P; Jackson, Graham H GH; Jöckel, Karl-Heinz KH; Johnsson, Ellinor E; Kristinsson, Sigurður Y SY; Mellqvist, Ulf-Henrik UH; Nahi, Hareth H; Easton, Douglas D; Pharoah, Paul P; Dunning, Alison A; Peto, Julian J; Canzian, Federico F; Swerdlow, Anthony A; Eeles, Rosalind A RA; Kote-Jarai, ZSofia Z; Muir, Kenneth K; Pashayan, Nora N; Nickel, Jolanta J; Nöthen, Markus M MM; Rafnar, Thorunn T; Ross, Fiona M FM; da Silva Filho, Miguel Inacio MI; Thomsen, Hauke H; Turesson, Ingemar I; Vangsted, Annette A; Andersen, Niels Frost NF; Waage, Anders A; Walker, Brian A BA; Wihlborg, Anna-Karin AK; Broyl, Annemiek A; Davies, Faith E FE; Thorsteinsdottir, Unnur U; Langer, Christian C; Hansson, Markus M; Goldschmidt, Hartmut H; Kaiser, Martin M; Sonneveld, Pieter P; Stefansson, Kari K; Morgan, Gareth J GJ; Hemminki, Kari K; Nilsson, Björn B; Houlston, Richard S RS; ,
Publication Date: 2018-09-13

Variant appearance in text: rs1423269
PubMed Link: 30213928
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_4989.pdf
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The multiple myeloma risk allele at 5q15 lowers ELL2 expression and increases ribosomal gene expression.

Nature Communications
Ali, Mina M; Ajore, Ram R; Wihlborg, Anna-Karin AK; Niroula, Abhishek A; Swaminathan, Bhairavi B; Johnsson, Ellinor E; Stephens, Owen W OW; Morgan, Gareth G; Meissner, Tobias T; Turesson, Ingemar I; Goldschmidt, Hartmut H; Mellqvist, Ulf-Henrik UH; Gullberg, Urban U; Hansson, Markus M; Hemminki, Kari K; Nahi, Hareth H; Waage, Anders A; Weinhold, Niels N; Nilsson, Björn B
Publication Date: 2018-04-25

Variant appearance in text: rs1423269
PubMed Link: 29695719
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_4082.pdf
View BVdb publication page



Genetic Predisposition to Multiple Myeloma at 5q15 Is Mediated by an ELL2 Enhancer Polymorphism.

Cell Reports
Li, Ni N; Johnson, David C DC; Weinhold, Niels N; Kimber, Scott S; Dobbins, Sara E SE; Mitchell, Jonathan S JS; Kinnersley, Ben B; Sud, Amit A; Law, Philip J PJ; Orlando, Giulia G; Scales, Matthew M; Wardell, Christopher P CP; Försti, Asta A; Hoang, Phuc H PH; Went, Molly M; Holroyd, Amy A; Hariri, Fadi F; Pastinen, Tomi T; Meissner, Tobias T; Goldschmidt, Hartmut H; Hemminki, Kari K; Morgan, Gareth J GJ; Kaiser, Martin M; Houlston, Richard S RS
Publication Date: 2017-09-12

Variant appearance in text: rs1423269
PubMed Link: 28903037
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • mmc2.pdf
View BVdb publication page



Genome-wide association study identifies multiple susceptibility loci for multiple myeloma.

Nature Communications
Mitchell, Jonathan S JS; Li, Ni N; Weinhold, Niels N; Försti, Asta A; Ali, Mina M; van Duin, Mark M; Thorleifsson, Gudmar G; Johnson, David C DC; Chen, Bowang B; Halvarsson, Britt-Marie BM; Gudbjartsson, Daniel F DF; Kuiper, Rowan R; Stephens, Owen W OW; Bertsch, Uta U; Broderick, Peter P; Campo, Chiara C; Einsele, Hermann H; Gregory, Walter A WA; Gullberg, Urban U; Henrion, Marc M; Hillengass, Jens J; Hoffmann, Per P; Jackson, Graham H GH; Johnsson, Ellinor E; Jöud, Magnus M; Kristinsson, Sigurður Y SY; Lenhoff, Stig S; Lenive, Oleg O; Mellqvist, Ulf-Henrik UH; Migliorini, Gabriele G; Nahi, Hareth H; Nelander, Sven S; Nickel, Jolanta J; Nöthen, Markus M MM; Rafnar, Thorunn T; Ross, Fiona M FM; da Silva Filho, Miguel Inacio MI; Swaminathan, Bhairavi B; Thomsen, Hauke H; Turesson, Ingemar I; Vangsted, Annette A; Vogel, Ulla U; Waage, Anders A; Walker, Brian A BA; Wihlborg, Anna-Karin AK; Broyl, Annemiek A; Davies, Faith E FE; Thorsteinsdottir, Unnur U; Langer, Christian C; Hansson, Markus M; Kaiser, Martin M; Sonneveld, Pieter P; Stefansson, Kari K; Morgan, Gareth J GJ; Goldschmidt, Hartmut H; Hemminki, Kari K; Nilsson, Björn B; Houlston, Richard S RS
Publication Date: 2016-07-01

Variant appearance in text: rs1423269
PubMed Link: 27363682
Variant Present in the following documents:
  • ncomms12050-s1.pdf
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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: rs1423269
PubMed Link: 22883611
Variant Present in the following documents:
  • Main text
View BVdb publication page