DOT1L c.81+6690A>T

Variant ID: 19-2170954-A-T

NM_032482.2(DOT1L):c.81+6690A>T

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs12986413
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Linking disease associations with regulatory information in the human genome.

Genome Research
Schaub, Marc A MA; Boyle, Alan P AP; Kundaje, Anshul A; Batzoglou, Serafim S; Snyder, Michael M
Publication Date: 2012-09

Variant appearance in text: rs12986413
PubMed Link: 22955986
Variant Present in the following documents:
  • 1748.pdf
View BVdb publication page



Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.

Obesity (Silver Spring, Md.)
Croteau-Chonka, Damien C DC; Marvelle, Amanda F AF; Lange, Ethan M EM; Lee, Nanette R NR; Adair, Linda S LS; Lange, Leslie A LA; Mohlke, Karen L KL
Publication Date: 2011-05

Variant appearance in text: rs12986413
PubMed Link: 20966902
Variant Present in the following documents:
  • Main text
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: rs12986413
PubMed Link: 20397748
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association scan for stature in Chinese: evidence for ethnic specific loci.

Human Genetics
Lei, Shu-Feng SF; Yang, Tie-Lin TL; Tan, Li-Jun LJ; Chen, Xiang-Ding XD; Guo, Yan Y; Guo, Yan-Fang YF; Zhang, Liang L; Liu, Xiao-Gang XG; Yan, Han H; Pan, Feng F; Zhang, Zhi-Xin ZX; Peng, Yu-Mei YM; Zhou, Qi Q; He, Li-Na LN; Zhu, Xue-Zhen XZ; Cheng, Jing J; Liu, Yao-Zhong YZ; Papasian, Christopher J CJ; Deng, Hong-Wen HW
Publication Date: 2009-02

Variant appearance in text: rs12986413
PubMed Link: 19030899
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of ten loci associated with height highlights new biological pathways in human growth.

Nature Genetics
Lettre, Guillaume G; Jackson, Anne U AU; Gieger, Christian C; Schumacher, Fredrick R FR; Berndt, Sonja I SI; Sanna, Serena S; Eyheramendy, Susana S; Voight, Benjamin F BF; Butler, Johannah L JL; Guiducci, Candace C; Illig, Thomas T; Hackett, Rachel R; Heid, Iris M IM; Jacobs, Kevin B KB; Lyssenko, Valeriya V; Uda, Manuela M; , ; , ; , ; , ; , ; , ; Boehnke, Michael M; Chanock, Stephen J SJ; Groop, Leif C LC; Hu, Frank B FB; Isomaa, Bo B; Kraft, Peter P; Peltonen, Leena L; Salomaa, Veikko V; Schlessinger, David D; Hunter, David J DJ; Hayes, Richard B RB; Abecasis, Gonçalo R GR; Wichmann, H-Erich HE; Mohlke, Karen L KL; Hirschhorn, Joel N JN
Publication Date: 2008-05

Variant appearance in text: rs12986413
PubMed Link: 18391950
Variant Present in the following documents:
  • Main text
View BVdb publication page