UQCC1 c.333+1654A>G

Variant ID: 20-33968067-T-C

NM_018244.4(UQCC1):c.333+1654A>G

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Ancient selection for derived alleles at a GDF5 enhancer influencing human growth and osteoarthritis risk.

Nature Genetics
Capellini, Terence D TD; Chen, Hao H; Cao, Jiaxue J; Doxey, Andrew C AC; Kiapour, Ata M AM; Schoor, Michael M; Kingsley, David M DM
Publication Date: 2017-08

Variant appearance in text: rs725908
PubMed Link: 28671685
Variant Present in the following documents:
  • Main text
  • nihms-884460.pdf
  • NIHMS884460-supplement-2.pdf
View BVdb publication page



Common variants in the GDF5-UQCC region are associated with variation in human height.

Nature Genetics
Sanna, Serena S; Jackson, Anne U AU; Nagaraja, Ramaiah R; Willer, Cristen J CJ; Chen, Wei-Min WM; Bonnycastle, Lori L LL; Shen, Haiqing H; Timpson, Nicholas N; Lettre, Guillaume G; Usala, Gianluca G; Chines, Peter S PS; Stringham, Heather M HM; Scott, Laura J LJ; Dei, Mariano M; Lai, Sandra S; Albai, Giuseppe G; Crisponi, Laura L; Naitza, Silvia S; Doheny, Kimberly F KF; Pugh, Elizabeth W EW; Ben-Shlomo, Yoav Y; Ebrahim, Shah S; Lawlor, Debbie A DA; Bergman, Richard N RN; Watanabe, Richard M RM; Uda, Manuela M; Tuomilehto, Jaakko J; Coresh, Josef J; Hirschhorn, Joel N JN; Shuldiner, Alan R AR; Schlessinger, David D; Collins, Francis S FS; Davey Smith, George G; Boerwinkle, Eric E; Cao, Antonio A; Boehnke, Michael M; Abecasis, Gonçalo R GR; Mohlke, Karen L KL
Publication Date: 2008-02

Variant appearance in text: rs725908
PubMed Link: 18193045
Variant Present in the following documents:
  • Main text
View BVdb publication page