XAF1 c.508-2930A>G

Variant ID: 17-6671032-A-G

NM_017523.3(XAF1):c.508-2930A>G

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs9891567
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
View BVdb publication page



Admixture fine-mapping in African Americans implicates XAF1 as a possible sarcoidosis risk gene.

Plos One
Levin, Albert M AM; Iannuzzi, Michael C MC; Montgomery, Courtney G CG; Trudeau, Sheri S; Datta, Indrani I; Adrianto, Indra I; Chitale, Dhananjay A DA; McKeigue, Paul P; Rybicki, Benjamin A BA
Publication Date: 2014

Variant appearance in text: rs9891567
PubMed Link: 24663488
Variant Present in the following documents:
  • Main text
  • pone.0092646.pdf
View BVdb publication page