SPI1 c.143-4482A>G

Variant ID: 11-47386073-T-C

NM_003120.2(SPI1):c.143-4482A>G

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Shared genetic architecture between the two neurodegenerative diseases: Alzheimer's disease and glaucoma.

Frontiers In Aging Neuroscience
Zheng, Chunwen C; Liu, Shunming S; Zhang, Xiayin X; Hu, Yunyan Y; Shang, Xianwen X; Zhu, Zhuoting Z; Huang, Yu Y; Wu, Guanrong G; Xiao, Yu Y; Du, Zijing Z; Liang, Yingying Y; Chen, Daiyu D; Zang, Siwen S; Hu, Yijun Y; He, Mingguang M; Zhang, Xueli X; Yu, Honghua H
Publication Date: 2022

Variant appearance in text: rs10838699
PubMed Link: 36118709
Variant Present in the following documents:
  • Main text
  • fnagi-14-880576.pdf
View BVdb publication page



Detecting the genetic link between Alzheimer's disease and obesity using bioinformatics analysis of GWAS data.

Oncotarget
Zhuang, Qi-Shuai QS; Zheng, Hao H; Gu, Xiao-Dan XD; Shen, Liang L; Ji, Hong-Fang HF
Publication Date: 2017-08-22

Variant appearance in text: rs10838699
PubMed Link: 28915562
Variant Present in the following documents:
  • Main text
  • oncotarget-08-55915.pdf
View BVdb publication page



A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer's disease.

Nature Neuroscience
Huang, Kuan-Lin KL; Marcora, Edoardo E; Pimenova, Anna A AA; Di Narzo, Antonio F AF; Kapoor, Manav M; Jin, Sheng Chih SC; Harari, Oscar O; Bertelsen, Sarah S; Fairfax, Benjamin P BP; Czajkowski, Jake J; Chouraki, Vincent V; Grenier-Boley, Benjamin B; Bellenguez, Céline C; Deming, Yuetiva Y; McKenzie, Andrew A; Raj, Towfique T; Renton, Alan E AE; Budde, John J; Smith, Albert A; Fitzpatrick, Annette A; Bis, Joshua C JC; DeStefano, Anita A; Adams, Hieab H H HHH; Ikram, M Arfan MA; van der Lee, Sven S; Del-Aguila, Jorge L JL; Fernandez, Maria Victoria MV; Ibañez, Laura L; , ; , ; Sims, Rebecca R; Escott-Price, Valentina V; Mayeux, Richard R; Haines, Jonathan L JL; Farrer, Lindsay A LA; Pericak-Vance, Margaret A MA; Lambert, Jean Charles JC; van Duijn, Cornelia C; Launer, Lenore L; Seshadri, Sudha S; Williams, Julie J; Amouyel, Philippe P; Schellenberg, Gerard D GD; Zhang, Bin B; Borecki, Ingrid I; Kauwe, John S K JSK; Cruchaga, Carlos C; Hao, Ke K; Goate, Alison M AM
Publication Date: 2017-08

Variant appearance in text: rs10838699
PubMed Link: 28628103
Variant Present in the following documents:
  • Main text
View BVdb publication page