JAK2 c.1327-502T>C

Variant ID: 9-5068520-T-C

NM_004972.3(JAK2):c.1327-502T>C

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: rs3780365
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: rs3780365
PubMed Link: 25526816
Variant Present in the following documents:
View BVdb publication page



Haplotype kernel association test as a powerful method to identify chromosomal regions harboring uncommon causal variants.

Genetic Epidemiology
Lin, Wan-Yu WY; Yi, Nengjun N; Lou, Xiang-Yang XY; Zhi, Degui D; Zhang, Kui K; Gao, Guimin G; Tiwari, Hemant K HK; Liu, Nianjun N
Publication Date: 2013-09

Variant appearance in text: rs3780365
PubMed Link: 23740760
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations.

Human Heredity
Chung, Wendy K WK; Patki, Amit A; Matsuoka, Naoki N; Boyer, Bert B BB; Liu, Nianjun N; Musani, Solomon K SK; Goropashnaya, Anna V AV; Tan, Perciliz L PL; Katsanis, Nicholas N; Johnson, Stephen B SB; Gregersen, Peter K PK; Allison, David B DB; Leibel, Rudolph L RL; Tiwari, Hemant K HK
Publication Date: 2009

Variant appearance in text: rs3780365
PubMed Link: 19077438
Variant Present in the following documents:
  • Main text
View BVdb publication page