RPS6KA1 c.1947+341C>G

Variant ID: 1-26899125-C-G

NM_002953.3(RPS6KA1):c.1947+341C>G

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: rs282177
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
View BVdb publication page



Genetic Variants Associated With Quantitative Glucose Homeostasis Traits Translate to Type 2 Diabetes in Mexican Americans: The GUARDIAN (Genetics Underlying Diabetes in Hispanics) Consortium.

Diabetes
Palmer, Nicholette D ND; Goodarzi, Mark O MO; Langefeld, Carl D CD; Wang, Nan N; Guo, Xiuqing X; Taylor, Kent D KD; Fingerlin, Tasha E TE; Norris, Jill M JM; Buchanan, Thomas A TA; Xiang, Anny H AH; Haritunians, Talin T; Ziegler, Julie T JT; Williams, Adrienne H AH; Stefanovski, Darko D; Cui, Jinrui J; Mackay, Adrienne W AW; Henkin, Leora F LF; Bergman, Richard N RN; Gao, Xiaoyi X; Gauderman, James J; Varma, Rohit R; Hanis, Craig L CL; Cox, Nancy J NJ; Highland, Heather M HM; Below, Jennifer E JE; Williams, Amy L AL; Burtt, Noel P NP; Aguilar-Salinas, Carlos A CA; Huerta-Chagoya, Alicia A; Gonzalez-Villalpando, Clicerio C; Orozco, Lorena L; Haiman, Christopher A CA; Tsai, Michael Y MY; Johnson, W Craig WC; Yao, Jie J; Rasmussen-Torvik, Laura L; Pankow, James J; Snively, Beverly B; Jackson, Rebecca D RD; Liu, Simin S; Nadler, Jerry L JL; Kandeel, Fouad F; Chen, Yii-Der I YD; Bowden, Donald W DW; Rich, Stephen S SS; Raffel, Leslie J LJ; Rotter, Jerome I JI; Watanabe, Richard M RM; Wagenknecht, Lynne E LE
Publication Date: 2015-05

Variant appearance in text: rs282177
PubMed Link: 25524916
Variant Present in the following documents:
  • supp_db14-0732_DB140732SupplementaryData.pdf
View BVdb publication page



An application of Random Forests to a genome-wide association dataset: methodological considerations & new findings.

Bmc Genetics
Goldstein, Benjamin A BA; Hubbard, Alan E AE; Cutler, Adele A; Barcellos, Lisa F LF
Publication Date: 2010-06-14

Variant appearance in text: rs282177
PubMed Link: 20546594
Variant Present in the following documents:
  • Main text
  • 1471-2156-11-49.pdf
View BVdb publication page