INSR c.2683-2074A>C

Variant ID: 19-7134402-T-G

NM_000208.2(INSR):c.2683-2074A>C

This variant was identified in 3 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: rs6510949
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
View BVdb publication page



The association between polymorphism of INSR and polycystic ovary syndrome: a meta-analysis.

International Journal Of Molecular Sciences
Feng, Chun C; Lv, Ping-Ping PP; Yu, Tian-Tian TT; Jin, Min M; Shen, Jin-Ming JM; Wang, Xue X; Zhou, Feng F; Jiang, Shi-Wen SW
Publication Date: 2015-01-22

Variant appearance in text: rs6510949
PubMed Link: 25622255
Variant Present in the following documents:
  • Main text
  • ijms-16-02403.pdf
View BVdb publication page



Replication of association of a novel insulin receptor gene polymorphism with polycystic ovary syndrome.

Fertility And Sterility
Goodarzi, Mark O MO; Louwers, Yvonne V YV; Taylor, Kent D KD; Jones, Michelle R MR; Cui, Jinrui J; Kwon, Soonil S; Chen, Yii-Der I YD; Guo, Xiuqing X; Stolk, Lisette L; Uitterlinden, André G AG; Laven, Joop S E JS; Azziz, Ricardo R
Publication Date: 2011-04

Variant appearance in text: rs6510949
PubMed Link: 21300347
Variant Present in the following documents:
  • Main text
View BVdb publication page