DOT1L c.82-4126A>G

Variant ID: 19-2176586-A-G

NM_032482.2(DOT1L):c.82-4126A>G

This variant was identified in 5 publications

View GRCh38 version.




Publications:


A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome.

Nature Communications
Skuladottir, Astros Th AT; Bjornsdottir, Gyda G; Ferkingstad, Egil E; Einarsson, Gudmundur G; Stefansdottir, Lilja L; Nawaz, Muhammad Sulaman MS; Oddsson, Asmundur A; Olafsdottir, Thorunn A TA; Saevarsdottir, Saedis S; Walters, G Bragi GB; Magnusson, Sigurdur H SH; Bjornsdottir, Anna A; Sveinsson, Olafur A OA; Vikingsson, Arnor A; Hansen, Thomas Folkmann TF; Jacobsen, Rikke Louise RL; Erikstrup, Christian C; Schwinn, Michael M; Brunak, Søren S; Banasik, Karina K; Ostrowski, Sisse Rye SR; Troelsen, Anders A; Henkel, Cecilie C; Pedersen, Ole Birger OB; , ; Jonsdottir, Ingileif I; Gudbjartsson, Daniel F DF; Sulem, Patrick P; Thorgeirsson, Thorgeir E TE; Stefansson, Hreinn H; Stefansson, Kari K
Publication Date: 2022-03-24

Variant appearance in text: DOT1L: 82-4126A>G; rs12459350
PubMed Link: 35332129
Variant Present in the following documents:
  • 41467_2022_29133_MOESM4_ESM.xlsx, sheet 2
  • 41467_2022_29133_MOESM4_ESM.xlsx, sheet 11
  • 41467_2022_29133_MOESM4_ESM.xlsx, sheet 9
  • 41467_2022_29133_MOESM4_ESM.xlsx, sheet 10
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Suv39h1 promotes facet joint chondrocyte proliferation by targeting miR-15a/Bcl2 in idiopathic scoliosis patients.

Clinical Epigenetics
Li, Jiong J; Yang, Guanteng G; Liu, Shaohua S; Wang, Longjie L; Liang, Zhuotao Z; Zhang, Hongqi H
Publication Date: 2019-07-23

Variant appearance in text: rs12459350
PubMed Link: 31337422
Variant Present in the following documents:
  • Main text
  • 13148_2019_Article_706.pdf
View BVdb publication page



Adult height variants affect birth length and growth rate in children.

Human Molecular Genetics
Paternoster, Lavinia L; Howe, Laura D LD; Tilling, Kate K; Weedon, Michael N MN; Freathy, Rachel M RM; Frayling, Timothy M TM; Kemp, John P JP; Smith, George Davey GD; Timpson, Nicholas J NJ; Ring, Susan M SM; Evans, David M DM; Lawlor, Debbie A DA
Publication Date: 2011-10-15

Variant appearance in text: rs12459350
PubMed Link: 21757498
Variant Present in the following documents:
  • Main text
  • ddr309.pdf
View BVdb publication page



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: rs12459350
PubMed Link: 20546612
Variant Present in the following documents:
  • Main text
  • 1471-2350-11-96.pdf
View BVdb publication page



Genetic determinants of height growth assessed longitudinally from infancy to adulthood in the northern Finland birth cohort 1966.

Plos Genetics
Sovio, Ulla U; Bennett, Amanda J AJ; Millwood, Iona Y IY; Molitor, John J; O'Reilly, Paul F PF; Timpson, Nicholas J NJ; Kaakinen, Marika M; Laitinen, Jaana J; Haukka, Jari J; Pillas, Demetris D; Tzoulaki, Ioanna I; Molitor, Jassy J; Hoggart, Clive C; Coin, Lachlan J M LJ; Whittaker, John J; Pouta, Anneli A; Hartikainen, Anna-Liisa AL; Freimer, Nelson B NB; Widen, Elisabeth E; Peltonen, Leena L; Elliott, Paul P; McCarthy, Mark I MI; Jarvelin, Marjo-Riitta MR
Publication Date: 2009-03

Variant appearance in text: rs12459350
PubMed Link: 19266077
Variant Present in the following documents:
  • Main text
  • pgen.1000409.pdf
View BVdb publication page