ACTRT3 c.201-133G>T

Variant ID: 3-169486271-C-A

NM_032487.4(ACTRT3):c.201-133G>T

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length.

American Journal Of Human Genetics
Li, Chen C; Stoma, Svetlana S; Lotta, Luca A LA; Warner, Sophie S; Albrecht, Eva E; Allione, Alessandra A; Arp, Pascal P PP; Broer, Linda L; Buxton, Jessica L JL; Da Silva Couto Alves, Alexessander A; Deelen, Joris J; Fedko, Iryna O IO; Gordon, Scott D SD; Jiang, Tao T; Karlsson, Robert R; Kerrison, Nicola N; Loe, Taylor K TK; Mangino, Massimo M; Milaneschi, Yuri Y; Miraglio, Benjamin B; Pervjakova, Natalia N; Russo, Alessia A; Surakka, Ida I; van der Spek, Ashley A; Verhoeven, Josine E JE; Amin, Najaf N; Beekman, Marian M; Blakemore, Alexandra I AI; Canzian, Federico F; Hamby, Stephen E SE; Hottenga, Jouke-Jan JJ; Jones, Peter D PD; Jousilahti, Pekka P; Mägi, Reedik R; Medland, Sarah E SE; Montgomery, Grant W GW; Nyholt, Dale R DR; Perola, Markus M; Pietiläinen, Kirsi H KH; Salomaa, Veikko V; Sillanpää, Elina E; Suchiman, H Eka HE; van Heemst, Diana D; Willemsen, Gonneke G; Agudo, Antonio A; Boeing, Heiner H; Boomsma, Dorret I DI; Chirlaque, Maria-Dolores MD; Fagherazzi, Guy G; Ferrari, Pietro P; Franks, Paul P; Gieger, Christian C; Eriksson, Johan Gunnar JG; Gunter, Marc M; Hägg, Sara S; Hovatta, Iiris I; Imaz, Liher L; Kaprio, Jaakko J; Kaaks, Rudolf R; Key, Timothy T; Krogh, Vittorio V; Martin, Nicholas G NG; Melander, Olle O; Metspalu, Andres A; Moreno, Concha C; Onland-Moret, N Charlotte NC; Nilsson, Peter P; Ong, Ken K KK; Overvad, Kim K; Palli, Domenico D; Panico, Salvatore S; Pedersen, Nancy L NL; Penninx, Brenda W J H BWJH; Quirós, J Ramón JR; Jarvelin, Marjo Riitta MR; Rodríguez-Barranco, Miguel M; Scott, Robert A RA; Severi, Gianluca G; Slagboom, P Eline PE; Spector, Tim D TD; Tjonneland, Anne A; Trichopoulou, Antonia A; Tumino, Rosario R; Uitterlinden, André G AG; van der Schouw, Yvonne T YT; van Duijn, Cornelia M CM; Weiderpass, Elisabete E; Denchi, Eros Lazzerini EL; Matullo, Giuseppe G; Butterworth, Adam S AS; Danesh, John J; Samani, Nilesh J NJ; Wareham, Nicholas J NJ; Nelson, Christopher P CP; Langenberg, Claudia C; Codd, Veryan V
Publication Date: 2020-03-05

Variant appearance in text: rs9860874
PubMed Link: 32109421
Variant Present in the following documents:
  • mmc2.xlsx, sheet 9
View BVdb publication page



Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.

Nature Communications
Duffy, David L DL; Zhu, Gu G; Li, Xin X; Sanna, Marianna M; Iles, Mark M MM; Jacobs, Leonie C LC; Evans, David M DM; Yazar, Seyhan S; Beesley, Jonathan J; Law, Matthew H MH; Kraft, Peter P; Visconti, Alessia A; Taylor, John C JC; Liu, Fan F; Wright, Margaret J MJ; Henders, Anjali K AK; Bowdler, Lisa L; Glass, Dan D; Ikram, M Arfan MA; Uitterlinden, André G AG; Madden, Pamela A PA; Heath, Andrew C AC; Nelson, Elliot C EC; Green, Adele C AC; Chanock, Stephen S; Barrett, Jennifer H JH; Brown, Matthew A MA; Hayward, Nicholas K NK; MacGregor, Stuart S; Sturm, Richard A RA; Hewitt, Alex W AW; , ; Kayser, Manfred M; Hunter, David J DJ; Newton Bishop, Julia A JA; Spector, Timothy D TD; Montgomery, Grant W GW; Mackey, David A DA; Smith, George Davey GD; Nijsten, Tamar E TE; Bishop, D Timothy DT; Bataille, Veronique V; Falchi, Mario M; Han, Jiali J; Martin, Nicholas G NG
Publication Date: 2018-11-14

Variant appearance in text: rs9860874
PubMed Link: 30429480
Variant Present in the following documents:
  • 41467_2018_6649_MOESM1_ESM.pdf
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs9860874
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Genome wide association and linkage analyses identified three loci-4q25, 17q23.2, and 10q11.21-associated with variation in leukocyte telomere length: the Long Life Family Study.

Frontiers In Genetics
Lee, Joseph H JH; Cheng, Rong R; Honig, Lawrence S LS; Feitosa, Mary M; Kammerer, Candace M CM; Kang, Min S MS; Schupf, Nicole N; Lin, Shiow J SJ; Sanders, Jason L JL; Bae, Harold H; Druley, Todd T; Perls, Thomas T; Christensen, Kaare K; Province, Michael M; Mayeux, Richard R
Publication Date: 2013

Variant appearance in text: rs9860874
PubMed Link: 24478790
Variant Present in the following documents:
  • Main text
  • fgene-04-00310.pdf
View BVdb publication page



Telomere length and variation in telomere biology genes in individuals with osteosarcoma.

International Journal Of Molecular Epidemiology And Genetics
Mirabello, Lisa L; Richards, Elliott G EG; Duong, Linh M LM; Yu, Kai K; Wang, Zhaoming Z; Cawthon, Richard R; Berndt, Sonja I SI; Burdett, Laurie L; Chowdhury, Salma S; Teshome, Kedest K; Douglass, Chester C; Savage, Sharon A SA; ,
Publication Date: 2011-01-01

Variant appearance in text: rs9860874
PubMed Link: 21537398
Variant Present in the following documents:
  • Main text
View BVdb publication page