NOTCH1 c.2740+210G>A

Variant ID: 9-139404895-C-T

NM_017617.3(NOTCH1):c.2740+210G>A

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Phenome-wide association studies across large population cohorts support drug target validation.

Nature Communications
Diogo, Dorothée D; Tian, Chao C; Franklin, Christopher S CS; Alanne-Kinnunen, Mervi M; March, Michael M; Spencer, Chris C A CCA; Vangjeli, Ciara C; Weale, Michael E ME; Mattsson, Hannele H; Kilpeläinen, Elina E; Sleiman, Patrick M A PMA; Reilly, Dermot F DF; McElwee, Joshua J; Maranville, Joseph C JC; Chatterjee, Arnaub K AK; Bhandari, Aman A; Nguyen, Khanh-Dung H KH; Estrada, Karol K; Reeve, Mary-Pat MP; Hutz, Janna J; Bing, Nan N; John, Sally S; MacArthur, Daniel G DG; Salomaa, Veikko V; Ripatti, Samuli S; Hakonarson, Hakon H; Daly, Mark J MJ; Palotie, Aarno A; Hinds, David A DA; Donnelly, Peter P; Fox, Caroline S CS; Day-Williams, Aaron G AG; Plenge, Robert M RM; Runz, Heiko H
Publication Date: 2018-10-16

Variant appearance in text: rs11145766
PubMed Link: 30327483
Variant Present in the following documents:
  • 41467_2018_6540_MOESM1_ESM.pdf
  • 41467_2018_Article_6540.pdf
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Innate immune activity conditions the effect of regulatory variants upon monocyte gene expression.

Science (New York, N.Y.)
Fairfax, Benjamin P BP; Humburg, Peter P; Makino, Seiko S; Naranbhai, Vivek V; Wong, Daniel D; Lau, Evelyn E; Jostins, Luke L; Plant, Katharine K; Andrews, Robert R; McGee, Chris C; Knight, Julian C JC
Publication Date: 2014-03-07

Variant appearance in text: rs11145766
PubMed Link: 24604202
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in healthy oldest-old.

Plos One
Halaschek-Wiener, Julius J; Amirabbasi-Beik, Mahsa M; Monfared, Nasim N; Pieczyk, Markus M; Sailer, Christian C; Kollar, Anita A; Thomas, Ruth R; Agalaridis, Georgios G; Yamada, So S; Oliveira, Lisa L; Collins, Jennifer A JA; Meneilly, Graydon G; Marra, Marco A MA; Madden, Kenneth M KM; Le, Nhu D ND; Connors, Joseph M JM; Brooks-Wilson, Angela R AR
Publication Date: 2009-08-14

Variant appearance in text: rs11145766
PubMed Link: 19680556
Variant Present in the following documents:
  • pone.0006641.s001.xls, sheet 1
View BVdb publication page