ELL2 c.317+2020G>C

Variant ID: 5-95253108-C-G

NM_012081.5(ELL2):c.317+2020G>C

This variant was identified in 3 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: rs3777189
PubMed Link: 35013207
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_27666.pdf
  • 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: rs3777189
PubMed Link: 35013207
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_27666.pdf
  • 41467_2021_27666_MOESM1_ESM.pdf
View BVdb publication page



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: rs3777189
PubMed Link: 29695719
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_4082.pdf
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: rs3777189
PubMed Link: 22883611
Variant Present in the following documents:
  • Main text
View BVdb publication page