JAK2 c.2571+2188G>T

Variant ID: 9-5084049-G-T

NM_004972.3(JAK2):c.2571+2188G>T

This variant was identified in 12 publications

View GRCh38 version.




Publications:


The Contribution of JAK2 46/1 Haplotype in the Predisposition to Myeloproliferative Neoplasms.

International Journal Of Molecular Sciences
Paes, Jhemerson J; Silva, George A V GAV; Tarragô, Andréa M AM; Mourão, Lucivana P de Souza LPS
Publication Date: 2022-10-20

Variant appearance in text: rs7857730
PubMed Link: 36293440
Variant Present in the following documents:
  • Main text
  • ijms-23-12582.pdf
View BVdb publication page



Searching for New Genetic Biomarkers of Axial Spondyloarthritis.

Journal Of Clinical Medicine
Bugaj, Bartosz B; Wielińska, Joanna J; Bogunia-Kubik, Katarzyna K; Świerkot, Jerzy J
Publication Date: 2022-05-20

Variant appearance in text: rs7857730
PubMed Link: 35629038
Variant Present in the following documents:
  • Main text
  • jcm-11-02912.pdf
View BVdb publication page



Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation.

Human Genetics
Longchamps, R J RJ; Yang, S Y SY; Castellani, C A CA; Shi, W W; Lane, J J; Grove, M L ML; Bartz, T M TM; Sarnowski, C C; Liu, C C; Burrows, K K; Guyatt, A L AL; Gaunt, T R TR; Kacprowski, T T; Yang, J J; De Jager, P L PL; Yu, L L; Bergman, A A; Xia, R R; Fornage, M M; Feitosa, M F MF; Wojczynski, M K MK; Kraja, A T AT; Province, M A MA; Amin, N N; Rivadeneira, F F; Tiemeier, H H; Uitterlinden, A G AG; Broer, L L; Van Meurs, J B J JBJ; Van Duijn, C M CM; Raffield, L M LM; Lange, L L; Rich, S S SS; Lemaitre, R N RN; Goodarzi, M O MO; Sitlani, C M CM; Mak, A C Y ACY; Bennett, D A DA; Rodriguez, S S; Murabito, J M JM; Lunetta, K L KL; Sotoodehnia, N N; Atzmon, G G; Ye, K K; Barzilai, N N; Brody, J A JA; Psaty, B M BM; Taylor, K D KD; Rotter, J I JI; Boerwinkle, E E; Pankratz, N N; Arking, D E DE
Publication Date: 2022-01

Variant appearance in text: rs7857730
PubMed Link: 34859289
Variant Present in the following documents:
  • 439_2021_2394_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



PIAS2-mediated blockade of IFN-β signaling: a basis for sporadic Parkinson disease dementia.

Molecular Psychiatry
Magalhaes, Joana J; Tresse, Emilie E; Ejlerskov, Patrick P; Hu, Erling E; Liu, Yawei Y; Marin, Andrea A; Montalant, Alexia A; Satriano, Letizia L; Rundsten, Carsten Friis CF; Carlsen, Eva Maria Meier EMM; Rydbirk, Rasmus R; Sharifi-Zarchi, Ali A; Andersen, Jesper Bøje JB; Aznar, Susana S; Brudek, Tomasz T; Khodosevich, Konstantin K; Prinz, Marco M; Perrier, Jean-François Marie JM; Sharma, Manu M; Gasser, Thomas T; Issazadeh-Navikas, Shohreh S
Publication Date: 2021-07-08

Variant appearance in text: rs7857730
PubMed Link: 34234281
Variant Present in the following documents:
  • Main text
  • 41380_2021_Article_1207.pdf
View BVdb publication page



PIAS2-mediated blockade of IFN-β signaling: a basis for sporadic Parkinson disease dementia.

Molecular Psychiatry
Magalhaes, Joana J; Tresse, Emilie E; Ejlerskov, Patrick P; Hu, Erling E; Liu, Yawei Y; Marin, Andrea A; Montalant, Alexia A; Satriano, Letizia L; Rundsten, Carsten Friis CF; Carlsen, Eva Maria Meier EMM; Rydbirk, Rasmus R; Sharifi-Zarchi, Ali A; Andersen, Jesper Bøje JB; Aznar, Susana S; Brudek, Tomasz T; Khodosevich, Konstantin K; Prinz, Marco M; Perrier, Jean-François Marie JM; Sharma, Manu M; Gasser, Thomas T; Issazadeh-Navikas, Shohreh S
Publication Date: 2021-10

Variant appearance in text: rs7857730
PubMed Link: 34234281
Variant Present in the following documents:
  • Main text
  • 41380_2021_Article_1207.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: rs7857730
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Targeting inflammatory pathways in axial spondyloarthritis.

Arthritis Research & Therapy
Furst, Daniel E DE; Louie, James S JS
Publication Date: 2019-06-04

Variant appearance in text: rs7857730
PubMed Link: 31164157
Variant Present in the following documents:
  • Main text
View BVdb publication page



Ankylosing spondylitis: analysis of gene-gene interactions between IL-12β, JAK2, and STAT3 in Han Chinese and Algerian cohorts.

Central-European Journal Of Immunology
Saadi, Ahlem A; Dang, Jie J; Shan, Shan S; Ladjouze-Rezig, Aicha A; Lefkir-Tafiani, Salima S; Gong, Yaoqin Y; Liu, Qiji Q; Benhassine, Traki T
Publication Date: 2019

Variant appearance in text: rs7857730
PubMed Link: 31114439
Variant Present in the following documents:
  • Main text
  • CEJI-44-84019.pdf
View BVdb publication page



No significant impact of IFN-γ pathway gene variants on tuberculosis susceptibility in a West African population.

European Journal Of Human Genetics : Ejhg
Meyer, Christian G CG; Intemann, Christopher D CD; Förster, Birgit B; Owusu-Dabo, Ellis E; Franke, Andre A; Horstmann, Rolf D RD; Thye, Thorsten T
Publication Date: 2016-05

Variant appearance in text: rs7857730
PubMed Link: 26242990
Variant Present in the following documents:
  • Main text
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: rs7857730
PubMed Link: 25526816
Variant Present in the following documents:
  • Main text
  • 12863_2014_Article_147.pdf
View BVdb publication page



Single nucleotide polymorphism (SNP)-based loss of heterozygosity (LOH) testing by real time PCR in patients suspect of myeloproliferative disease.

Plos One
Huijsmans, Cornelis J J CJ; Poodt, Jeroen J; Damen, Jan J; van der Linden, Johannes C JC; Savelkoul, Paul H M PH; Pruijt, Johannes F M JF; Hilbink, Mirrian M; Hermans, Mirjam H A MH
Publication Date: 2012

Variant appearance in text: rs7857730
PubMed Link: 22768290
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of common variants in JAK2 gene with reduced risk of metabolic syndrome and related disorders.

Bmc Medical Genetics
Penas-Steinhardt, Alberto A; Tellechea, Mariana L ML; Gomez-Rosso, Leonardo L; Brites, Fernando F; Frechtel, Gustavo D GD; Poskus, Edgardo E
Publication Date: 2011-12-20

Variant appearance in text: rs7857730
PubMed Link: 22185674
Variant Present in the following documents:
  • Main text
  • 1471-2350-12-166.pdf
View BVdb publication page



Association of common JAK2 variants with body fat, insulin sensitivity and lipid profile.

Obesity (Silver Spring, Md.)
Ge, Dongliang D; Gooljar, Sakina B SB; Kyriakou, Theodosios T; Collins, Laura J LJ; Swaminathan, Ramasamyiyer R; Snieder, Harold H; Spector, Tim D TD; O'Dell, Sandra D SD
Publication Date: 2008-02

Variant appearance in text: rs7857730
PubMed Link: 18239666
Variant Present in the following documents:
  • Main text
View BVdb publication page