CATSPER4 c.459+761G>A

Variant ID: 1-26521140-G-A

NM_198137.1(CATSPER4):c.459+761G>A

This variant was identified in 4 publications

View GRCh38 version.




Publications:


The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.

Bmc Medical Genetics
Zhao, Jianhua J; Li, Mingyao M; Bradfield, Jonathan P JP; Zhang, Haitao H; Mentch, Frank D FD; Wang, Kai K; Sleiman, Patrick M PM; Kim, Cecilia E CE; Glessner, Joseph T JT; Hou, Cuiping C; Keating, Brendan J BJ; Thomas, Kelly A KA; Garris, Maria L ML; Deliard, Sandra S; Frackelton, Edward C EC; Otieno, F George FG; Chiavacci, Rosetta M RM; Berkowitz, Robert I RI; Hakonarson, Hakon H; Grant, Struan F A SF
Publication Date: 2010-06-14

Variant appearance in text: rs11809207
PubMed Link: 20546612
Variant Present in the following documents:
  • Main text
  • 1471-2350-11-96.pdf
View BVdb publication page



Genome-wide association study of height and body mass index in Australian twin families.

Twin Research And Human Genetics : The Official Journal Of The International Society For Twin Studies
Liu, Jimmy Z JZ; Medland, Sarah E SE; Wright, Margaret J MJ; Henders, Anjali K AK; Heath, Andrew C AC; Madden, Pamela A F PA; Duncan, Alexis A; Montgomery, Grant W GW; Martin, Nicholas G NG; McRae, Allan F AF
Publication Date: 2010-04

Variant appearance in text: rs11809207
PubMed Link: 20397748
Variant Present in the following documents:
  • Main text
View BVdb publication page



Origins and functional impact of copy number variation in the human genome.

Nature
Conrad, Donald F DF; Pinto, Dalila D; Redon, Richard R; Feuk, Lars L; Gokcumen, Omer O; Zhang, Yujun Y; Aerts, Jan J; Andrews, T Daniel TD; Barnes, Chris C; Campbell, Peter P; Fitzgerald, Tomas T; Hu, Min M; Ihm, Chun Hwa CH; Kristiansson, Kati K; Macarthur, Daniel G DG; Macdonald, Jeffrey R JR; Onyiah, Ifejinelo I; Pang, Andy Wing Chun AW; Robson, Sam S; Stirrups, Kathy K; Valsesia, Armand A; Walter, Klaudia K; Wei, John J; , ; Tyler-Smith, Chris C; Carter, Nigel P NP; Lee, Charles C; Scherer, Stephen W SW; Hurles, Matthew E ME
Publication Date: 2010-04-01

Variant appearance in text: rs11809207
PubMed Link: 19812545
Variant Present in the following documents:
  • Main text
View BVdb publication page



Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.

Plos Genetics
Soranzo, Nicole N; Rivadeneira, Fernando F; Chinappen-Horsley, Usha U; Malkina, Ida I; Richards, J Brent JB; Hammond, Naomi N; Stolk, Lisette L; Nica, Alexandra A; Inouye, Michael M; Hofman, Albert A; Stephens, Jonathan J; Wheeler, Eleanor E; Arp, Pascal P; Gwilliam, Rhian R; Jhamai, P Mila PM; Potter, Simon S; Chaney, Amy A; Ghori, Mohammed J R MJ; Ravindrarajah, Radhi R; Ermakov, Sergey S; Estrada, Karol K; Pols, Huibert A P HA; Williams, Frances M FM; McArdle, Wendy L WL; van Meurs, Joyce B JB; Loos, Ruth J F RJ; Dermitzakis, Emmanouil T ET; Ahmadi, Kourosh R KR; Hart, Deborah J DJ; Ouwehand, Willem H WH; Wareham, Nicholas J NJ; Barroso, Inês I; Sandhu, Manjinder S MS; Strachan, David P DP; Livshits, Gregory G; Spector, Timothy D TD; Uitterlinden, André G AG; Deloukas, Panos P
Publication Date: 2009-04

Variant appearance in text: rs11809207
PubMed Link: 19343178
Variant Present in the following documents:
  • Main text
  • pgen.1000445.pdf
View BVdb publication page