SORT1 c.440+17G>A

Variant ID: 1-109910013-C-T

NM_002959.5(SORT1):c.440+17G>A

This variant was identified in 4 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: rs11581665
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
View BVdb publication page



Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10

Variant appearance in text: SORT1: 440+17G>A
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Increased serum levels of sortilin are associated with depression and correlated with BDNF and VEGF.

Translational Psychiatry
Buttenschøn, H N HN; Demontis, D D; Kaas, M M; Elfving, B B; Mølgaard, S S; Gustafsen, C C; Kaerlev, L L; Petersen, C M CM; Børglum, A D AD; Mors, O O; Glerup, S S
Publication Date: 2015-11-10

Variant appearance in text: rs11581665
PubMed Link: 26556286
Variant Present in the following documents:
  • Main text
  • tp2015167a.pdf
View BVdb publication page



A novel method for testing association of multiple genetic markers with a multinomial trait.

Proceedings. American Statistical Association. Annual Meeting
Kwon, Soonil S; Goodarzi, Mark O MO; Taylor, Kent D KD; Cui, Jinrui J; Chen, Y-D Ida YD; Rotter, Jerome I JI; Hsueh, Willa W; Guo, Xiuqing X
Publication Date: 2010

Variant appearance in text: rs11581665
PubMed Link: 26005397
Variant Present in the following documents:
  • Main text
View BVdb publication page