JAK2 c.1057-1182T>A

Variant ID: 9-5063701-T-A

NM_004972.3(JAK2):c.1057-1182T>A

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: rs10815149
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Genetic association between germline JAK2 polymorphisms and myeloproliferative neoplasms in Hong Kong Chinese population: a case-control study.

Bmc Genetics
Koh, Su Pin SP; Yip, Shea Ping SP; Lee, Kwok Kuen KK; Chan, Chi Chung CC; Lau, Sze Man SM; Kho, Chi Shan CS; Lau, Chi Kuen CK; Lin, Shek Ying SY; Lau, Yat Ming YM; Wong, Lap Gate LG; Au, Ka Leung KL; Wong, Kit Fai KF; Chu, Raymond W RW; Yu, Pui Hung PH; Chow, Eudora Y D EY; Leung, Kate F S KF; Tsoi, Wai Chiu WC; Yung, Benjamin Y M BY
Publication Date: 2014-12-20

Variant appearance in text: rs10815149
PubMed Link: 25526816
Variant Present in the following documents:
View BVdb publication page



Convergent mechanisms of somatic mutations in polycythemia vera.

Discovery Medicine
Wang, Kai K; Swierczek, Sabina S; Hickman, Kimberly K; Hakonarson, Hakon H; Prchal, Josef T JT
Publication Date: 2011-07

Variant appearance in text: rs10815149
PubMed Link: 21794206
Variant Present in the following documents:
  • Main text
View BVdb publication page



Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.

Nature Genetics
Silverberg, Mark S MS; Cho, Judy H JH; Rioux, John D JD; McGovern, Dermot P B DP; Wu, Jing J; Annese, Vito V; Achkar, Jean-Paul JP; Goyette, Philippe P; Scott, Regan R; Xu, Wei W; Barmada, M Michael MM; Klei, Lambertus L; Daly, Mark J MJ; Abraham, Clara C; Bayless, Theodore M TM; Bossa, Fabrizio F; Griffiths, Anne M AM; Ippoliti, Andrew F AF; Lahaie, Raymond G RG; Latiano, Anna A; Paré, Pierre P; Proctor, Deborah D DD; Regueiro, Miguel D MD; Steinhart, A Hillary AH; Targan, Stephan R SR; Schumm, L Philip LP; Kistner, Emily O EO; Lee, Annette T AT; Gregersen, Peter K PK; Rotter, Jerome I JI; Brant, Steven R SR; Taylor, Kent D KD; Roeder, Kathryn K; Duerr, Richard H RH
Publication Date: 2009-02

Variant appearance in text: rs10815149
PubMed Link: 19122664
Variant Present in the following documents:
  • NIHMS74184-supplement-1.pdf
View BVdb publication page