JAK2 c.-26+12379C>T

Variant ID: 9-4998401-C-T

NM_004972.4(JAK2):c.-26+12379C>T

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells.

Nature
Bao, Erik L EL; Nandakumar, Satish K SK; Liao, Xiaotian X; Bick, Alexander G AG; Karjalainen, Juha J; Tabaka, Marcin M; Gan, Olga I OI; Havulinna, Aki S AS; Kiiskinen, Tuomo T J TTJ; Lareau, Caleb A CA; de Lapuente Portilla, Aitzkoa L AL; Li, Bo B; Emdin, Connor C; Codd, Veryan V; Nelson, Christopher P CP; Walker, Christopher J CJ; Churchhouse, Claire C; de la Chapelle, Albert A; Klein, Daryl E DE; Nilsson, Björn B; Wilson, Peter W F PWF; Cho, Kelly K; Pyarajan, Saiju S; Gaziano, J Michael JM; Samani, Nilesh J NJ; , ; , ; Regev, Aviv A; Palotie, Aarno A; Neale, Benjamin M BM; Dick, John E JE; Natarajan, Pradeep P; O'Donnell, Christopher J CJ; Daly, Mark J MJ; Milyavsky, Michael M; Kathiresan, Sekar S; Sankaran, Vijay G VG
Publication Date: 2020-10

Variant appearance in text: rs7868130
PubMed Link: 33057200
Variant Present in the following documents:
  • Main text
  • nihms-1609342.pdf
View BVdb publication page



Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs7868130
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Monogenic and polygenic inheritance become instruments for clonal selection.

Nature
Loh, Po-Ru PR; Genovese, Giulio G; McCarroll, Steven A SA
Publication Date: 2020-08

Variant appearance in text: rs7868130
PubMed Link: 32581363
Variant Present in the following documents:
  • NIHMS1587518-supplement-1587518_Supp_Tab1-23.pdf
View BVdb publication page



Detection and interpretation of shared genetic influences on 42 human traits.

Nature Genetics
Pickrell, Joseph K JK; Berisa, Tomaz T; Liu, Jimmy Z JZ; Ségurel, Laure L; Tung, Joyce Y JY; Hinds, David A DA
Publication Date: 2016-07

Variant appearance in text: rs7868130
PubMed Link: 27182965
Variant Present in the following documents:
  • NIHMS780506-supplement-5.pdf
View BVdb publication page