JAK2 c.1776+172T>C

Variant ID: 9-5072798-T-C

NM_004972.3(JAK2):c.1776+172T>C

This variant was identified in 11 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: rs4495487
PubMed Link: 36293440
Variant Present in the following documents:
  • Main text
  • ijms-23-12582.pdf
View BVdb publication page



Pain Management of Budd Chiari Syndrome in the Primary Care Setting: A Case Study.

Innovations In Pharmacy
Murphy, Pilar Z PZ; Thomas, Jimiece J; McClelland, Taylor P TP
Publication Date: 2021

Variant appearance in text: rs4495487
PubMed Link: 34345504
Variant Present in the following documents:
  • 21550417-12-02-3906.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: rs4495487
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



The epidemiology and clinical characteristics of myeloproliferative neoplasms in Malaysia.

Experimental Hematology & Oncology
Yap, Yee Yee YY; Law, Kian Boon KB; Sathar, Jameela J; Lau, Ngee Siang NS; Goh, Ai Sim AS; Chew, Teng Keat TK; Lim, Soo Min SM; Menon, Padmini P; Guan, Yong Khee YK; Husin, Azlan Bin AB; Wong, Lily Lee Lee LLL; Chew, Lee Ping LP; Salleh, Sinari S; Goh, Kim Yen KY; Leong, Kin Wah KW; Tan, Sen Mui SM; Ong, Tee Chuan TC; Lim, Su Hong SH; Toh, See Guan SG; Han, Xavier Sim Yoon XSY; Edmund, Syed Carlo SC; Tan, Jenq Tzong JT; Chang, Kian Meng KM
Publication Date: 2018

Variant appearance in text: rs4495487
PubMed Link: 30564475
Variant Present in the following documents:
  • Main text
View BVdb publication page



Personal Genome Project UK (PGP-UK): a research and citizen science hybrid project in support of personalized medicine.

Bmc Medical Genomics
,
Publication Date: 2018-11-27

Variant appearance in text: rs4495487
PubMed Link: 30482208
Variant Present in the following documents:
  • 12920_2018_423_MOESM1_ESM.pdf
View BVdb publication page



Germline variations at JAK2, TERT, HBS1L-MYB and MECOM and the risk of myeloproliferative neoplasms in Taiwanese population.

Oncotarget
Chiang, Yi-Hao YH; Chang, Yu-Cheng YC; Lin, Huan-Chau HC; Huang, Ling L; Cheng, Chun-Chia CC; Wang, Wei-Ting WT; Cheng, Hung-I HI; Su, Nai-Wen NW; Chen, Caleb Gon-Shen CG; Lin, Johnson J; Chang, Yi-Fang YF; Chang, Ming-Chih MC; Hsieh, Ruey-Kuen RK; Chou, Wen-Chien WC; Lim, Ken-Hong KH; Kuo, Yuan-Yeh YY
Publication Date: 2017-09-29

Variant appearance in text: rs4495487
PubMed Link: 29100304
Variant Present in the following documents:
  • Main text
  • oncotarget-08-76204.pdf
View BVdb publication page



Association between JAK2 rs4495487 Polymorphism and Risk of Budd-Chiari Syndrome in China.

Gastroenterology Research And Practice
Zhang, Peijin P; Zhang, Yanyan Y; Zhang, Jing J; Wang, Hui H; Ma, He H; Wang, Wei W; Gao, Xiuyin X; Xu, Hao H; Lu, Zhaojun Z
Publication Date: 2015

Variant appearance in text: rs4495487
PubMed Link: 26557140
Variant Present in the following documents:
  • Main text
  • GRP2015-807865.pdf
View BVdb publication page



Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP
Publication Date: 2014-12-24

Variant appearance in text: rs4495487
PubMed Link: 25589003
Variant Present in the following documents:
  • 40478_2014_167_MOESM1_ESM.xlsx, sheet 6
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: rs4495487
PubMed Link: 25526816
Variant Present in the following documents:
  • Main text
  • 12863_2014_Article_147.pdf
View BVdb publication page



Evaluation of the association between the JAK2 46/1 haplotype and chronic myeloproliferative neoplasms in a Brazilian population.

Clinics (Sao Paulo, Brazil)
Pagliarini-e-Silva, Sarah S; Santos, Bruna Cunha BC; Pereira, Elizangela Mendes de Figueiredo EM; Ferreira, Mari Ellen ME; Baraldi, Elaine Cristina EC; Sell, Ana Maria AM; Visentainer, Jeane Eliete Laguila JE
Publication Date: 2013-01

Variant appearance in text: rs4495487
PubMed Link: 23420150
Variant Present in the following documents:
  • cln-68-01-005.pdf
View BVdb publication page



The C allele of JAK2 rs4495487 is an additional candidate locus that contributes to myeloproliferative neoplasm predisposition in the Japanese population.

Bmc Medical Genetics
Ohyashiki, Junko H JH; Yoneta, Masayuki M; Hisatomi, Hisashi H; Iwabuchi, Tamiko T; Umezu, Tomohiro T; Ohyashiki, Kazuma K
Publication Date: 2012-01-17

Variant appearance in text: rs4495487
PubMed Link: 22251709
Variant Present in the following documents:
  • Main text
  • 1471-2350-13-6.pdf
View BVdb publication page