EYA2 c.-11+10427A>G

Variant ID: 20-45534053-A-G

NM_005244.5(EYA2):c.-11+10427A>G

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.

Nature Communications
Gharahkhani, Puya P; Jorgenson, Eric E; Hysi, Pirro P; Khawaja, Anthony P AP; Pendergrass, Sarah S; Han, Xikun X; Ong, Jue Sheng JS; Hewitt, Alex W AW; Segrè, Ayellet V AV; Rouhana, John M JM; Hamel, Andrew R AR; Igo, Robert P RP; Choquet, Helene H; Qassim, Ayub A; Josyula, Navya S NS; Cooke Bailey, Jessica N JN; Bonnemaijer, Pieter W M PWM; Iglesias, Adriana A; Siggs, Owen M OM; Young, Terri L TL; Vitart, Veronique V; Thiadens, Alberta A H J AAHJ; Karjalainen, Juha J; Uebe, Steffen S; Melles, Ronald B RB; Nair, K Saidas KS; Luben, Robert R; Simcoe, Mark M; Amersinghe, Nishani N; Cree, Angela J AJ; Hohn, Rene R; Poplawski, Alicia A; Chen, Li Jia LJ; Rong, Shi-Song SS; Aung, Tin T; Vithana, Eranga Nishanthie EN; , ; , ; , ; , ; , ; , ; , ; Tamiya, Gen G; Shiga, Yukihiro Y; Yamamoto, Masayuki M; Nakazawa, Toru T; Currant, Hannah H; Birney, Ewan E; Wang, Xin X; Auton, Adam A; Lupton, Michelle K MK; Martin, Nicholas G NG; Ashaye, Adeyinka A; Olawoye, Olusola O; Williams, Susan E SE; Akafo, Stephen S; Ramsay, Michele M; Hashimoto, Kazuki K; Kamatani, Yoichiro Y; Akiyama, Masato M; Momozawa, Yukihide Y; Foster, Paul J PJ; Khaw, Peng T PT; Morgan, James E JE; Strouthidis, Nicholas G NG; Kraft, Peter P; Kang, Jae H JH; Pang, Chi Pui CP; Pasutto, Francesca F; Mitchell, Paul P; Lotery, Andrew J AJ; Palotie, Aarno A; van Duijn, Cornelia C; Haines, Jonathan L JL; Hammond, Chris C; Pasquale, Louis R LR; Klaver, Caroline C W CCW; Hauser, Michael M; Khor, Chiea Chuen CC; Mackey, David A DA; Kubo, Michiaki M; Cheng, Ching-Yu CY; Craig, Jamie E JE; MacGregor, Stuart S; Wiggs, Janey L JL
Publication Date: 2021-02-24

Variant appearance in text: rs6124885
PubMed Link: 33627673
Variant Present in the following documents:
  • Main text
  • 41467_2020_Article_20851.pdf
View BVdb publication page



Genome-wide association analysis implicates elastic microfibrils in the development of nonsyndromic striae distensae.

The Journal Of Investigative Dermatology
Tung, Joyce Y JY; Kiefer, Amy K AK; Mullins, Meghan M; Francke, Uta U; Eriksson, Nicholas N
Publication Date: 2013-11

Variant appearance in text: rs6124885
PubMed Link: 23633020
Variant Present in the following documents:
  • jid2013196x1.pdf
View BVdb publication page