EPHA2 c.824-1078A>G

Variant ID: 1-16466003-T-C

NM_004431.3(EPHA2):c.824-1078A>G

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Brief report: enrichment of associations in genes with fibrosis, apoptosis, and innate immunity functions with cardiac manifestations of neonatal lupus.

Arthritis And Rheumatism
Ramos, Paula S PS; Marion, Miranda C MC; Langefeld, Carl D CD; , ; Buyon, Jill P JP; Clancy, Robert M RM
Publication Date: 2012-12

Variant appearance in text: rs11260745
PubMed Link: 22886516
Variant Present in the following documents:
  • Main text
View BVdb publication page



EPHA2 is associated with age-related cortical cataract in mice and humans.

Plos Genetics
Jun, Gyungah G; Guo, Hong H; Klein, Barbara E K BE; Klein, Ronald R; Wang, Jie Jin JJ; Mitchell, Paul P; Miao, Hui H; Lee, Kristine E KE; Joshi, Tripti T; Buck, Matthias M; Chugha, Preeti P; Bardenstein, David D; Klein, Alison P AP; Bailey-Wilson, Joan E JE; Gong, Xiaohua X; Spector, Tim D TD; Andrew, Toby T; Hammond, Christopher J CJ; Elston, Robert C RC; Iyengar, Sudha K SK; Wang, Bingcheng B
Publication Date: 2009-07

Variant appearance in text: rs11260745
PubMed Link: 19649315
Variant Present in the following documents:
  • Main text
  • pgen.1000584.pdf
View BVdb publication page