SGMS1 c.-589+1019C>A

Variant ID: 10-52348894-G-T

NM_147156.4(SGMS1):c.-589+1019C>A

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: rs3011710
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
View BVdb publication page



Sphingolipid Metabolic Pathway Impacts Thiazide Diuretics Blood Pressure Response: Insights From Genomics, Metabolomics, and Lipidomics.

Journal Of The American Heart Association
Shahin, Mohamed H MH; Gong, Yan Y; Frye, Reginald F RF; Rotroff, Daniel M DM; Beitelshees, Amber L AL; Baillie, Rebecca A RA; Chapman, Arlene B AB; Gums, John G JG; Turner, Stephen T ST; Boerwinkle, Eric E; Motsinger-Reif, Alison A; Fiehn, Oliver O; Cooper-DeHoff, Rhonda M RM; Han, Xianlin X; Kaddurah-Daouk, Rima R; Johnson, Julie A JA
Publication Date: 2017-12-29

Variant appearance in text: rs3011710
PubMed Link: 29288159
Variant Present in the following documents:
  • JAH3-7-e006656-s001.pdf
  • JAH3-7-e006656.pdf
View BVdb publication page