EGLN1 c.892-11633G>A

Variant ID: 1-231521478-C-T

NM_022051.2(EGLN1):c.892-11633G>A

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Molecular Mechanisms of High-Altitude Acclimatization.

International Journal Of Molecular Sciences
Mallet, Robert T RT; Burtscher, Johannes J; Pialoux, Vincent V; Pasha, Qadar Q; Ahmad, Yasmin Y; Millet, Grégoire P GP; Burtscher, Martin M
Publication Date: 2023-01-15

Variant appearance in text: rs2486736
PubMed Link: 36675214
Variant Present in the following documents:
  • Main text
  • ijms-24-01698.pdf
View BVdb publication page



Vascular homeostasis at high-altitude: role of genetic variants and transcription factors.

Pulmonary Circulation
Chanana, Neha N; Palmo, Tsering T; Newman, John H JH; Pasha, M A Qadar MAQ
Publication Date: 2020

Variant appearance in text: rs2486736
PubMed Link: 33282179
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of EPAS1 and PPARA Gene Polymorphisms with High-Altitude Headache in Chinese Han Population.

Biomed Research International
Shen, Yang Y; Zhang, Jihang J; Yang, Jie J; Liu, Chuan C; Bian, Shizhu S; Zhang, Chen C; Yu, Jie J; Gao, Xubin X; Huang, Lan L
Publication Date: 2020

Variant appearance in text: rs2486736
PubMed Link: 32185192
Variant Present in the following documents:
  • Main text
  • BMRI2020-1593068.pdf
View BVdb publication page



Association Between Single Nucleotide Polymorphisms in PPARA and EPAS1 Genes and High-Altitude Appetite Loss in Chinese Young Men.

Frontiers In Physiology
Pan, Wenxu W; Liu, Chuan C; Zhang, Jihang J; Gao, Xubin X; Yu, Shiyong S; Tan, Hu H; Yu, Jie J; Qian, Dehui D; Li, Jiabei J; Bian, Shizhu S; Yang, Jie J; Zhang, Chen C; Huang, Lan L; Jin, Jun J
Publication Date: 2019

Variant appearance in text: rs2486736
PubMed Link: 30778304
Variant Present in the following documents:
  • Main text
  • fphys-10-00059.pdf
View BVdb publication page



Variants of the low oxygen sensors EGLN1 and HIF-1AN associated with acute mountain sickness.

International Journal Of Molecular Sciences
Zhang, Enhao E; Zhang, Jihang J; Jin, Jun J; Qin, Jun J; Li, Huijie H; Huang, Lan L
Publication Date: 2014-11-26

Variant appearance in text: rs2486736
PubMed Link: 25431923
Variant Present in the following documents:
  • Main text
  • ijms-15-21777.pdf
View BVdb publication page



Identifying signatures of natural selection in Tibetan and Andean populations using dense genome scan data.

Plos Genetics
Bigham, Abigail A; Bauchet, Marc M; Pinto, Dalila D; Mao, Xianyun X; Akey, Joshua M JM; Mei, Rui R; Scherer, Stephen W SW; Julian, Colleen G CG; Wilson, Megan J MJ; López Herráez, David D; Brutsaert, Tom T; Parra, Esteban J EJ; Moore, Lorna G LG; Shriver, Mark D MD
Publication Date: 2010-09-09

Variant appearance in text: rs2486736
PubMed Link: 20838600
Variant Present in the following documents:
  • Main text
  • pgen.1001116.pdf
View BVdb publication page