JAK2 c.351-1422G>T

Variant ID: 9-5042981-G-T

NM_004972.3(JAK2):c.351-1422G>T

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: rs7033052
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: rs7033052
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: rs7033052
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: rs7033052
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page