EHMT2 c.1510-17C>T

Variant ID: 6-31856070-G-A

NM_006709.3(EHMT2):c.1510-17C>T

This variant was identified in 18 publications

View GRCh38 version.




Publications:


Intravesical BCG in patients with non-muscle invasive bladder cancer induces trained immunity and decreases respiratory infections.

Journal For Immunotherapy Of Cancer
van Puffelen, Jelmer H JH; Novakovic, Boris B; van Emst, Liesbeth L; Kooper, Denise D; Zuiverloon, Tahlita C M TCM; Oldenhof, Ursula T H UTH; Witjes, J Alfred JA; Galesloot, Tessel E TE; Vrieling, Alina A; Aben, Katja K H KKH; Kiemeney, Lambertus A L M LALM; Oosterwijk, Egbert E; Netea, Mihai G MG; Boormans, Joost L JL; van der Heijden, Antoine G AG; Joosten, Leo A B LAB; Vermeulen, Sita H SH
Publication Date: 2023-01

Variant appearance in text: rs486416
PubMed Link: 36693678
Variant Present in the following documents:
  • Main text
  • jitc-2022-005518.pdf
View BVdb publication page



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: rs486416
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Evaluation of Personalized Skincare Through in-silico Gene Interactive Networks and Cellular Responses to UVR and Oxidative Stress.

Clinical, Cosmetic And Investigational Dermatology
Markiewicz, Ewa E; Idowu, Olusola C OC
Publication Date: 2022

Variant appearance in text: rs486416
PubMed Link: 36284733
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association Between Sleep Traits and Rheumatoid Arthritis: A Mendelian Randomization Study.

Frontiers In Public Health
Gao, Rui-Chen RC; Sang, Ni N; Jia, Cheng-Zhen CZ; Zhang, Meng-Yao MY; Li, Bo-Han BH; Wei, Meng M; Wu, Guo-Cui GC
Publication Date: 2022

Variant appearance in text: rs486416
PubMed Link: 35844889
Variant Present in the following documents:
  • Main text
  • fpubh-10-940161.pdf
View BVdb publication page



Causal Relationship Between Sleep Traits and Risk of Systemic Lupus Erythematosus: A Two-Sample Mendelian Randomization Study.

Frontiers In Immunology
Sang, Ni N; Gao, Rui-Chen RC; Zhang, Meng-Yao MY; Wu, Zhen-Zhen ZZ; Wu, Zhen-Gang ZG; Wu, Guo-Cui GC
Publication Date: 2022

Variant appearance in text: rs486416
PubMed Link: 35784289
Variant Present in the following documents:
  • Main text
  • fimmu-13-918749.pdf
View BVdb publication page



Increased brain volume from higher cereal and lower coffee intake: shared genetic determinants and impacts on cognition and metabolism.

Cerebral Cortex (New York, N.Y. : 1991)
Kang, Jujiao J; Jia, Tianye T; Jiao, Zeyu Z; Shen, Chun C; Xie, Chao C; Cheng, Wei W; Sahakian, Barbara J BJ; Waxman, David D; Feng, Jianfeng J
Publication Date: 2022-11-09

Variant appearance in text: rs486416
PubMed Link: 35136970
Variant Present in the following documents:
  • supplementary_materials_revised_submit_bhac005.pdf
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs486416
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: rs486416
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Variants in Antineutrophil Cytoplasmic Antibody-Associated Vasculitis: A Bayesian Approach and Systematic Review.

Journal Of Clinical Medicine
Lee, Kwang Seob KS; Kronbichler, Andreas A; Pereira Vasconcelos, Daniel Fernando DF; Pereira da Silva, Felipe Rodolfo FR; Ko, Younhee Y; Oh, Yeon Su YS; Eisenhut, Michael M; Merkel, Peter A PA; Jayne, David D; Amos, Christopher I CI; Siminovitch, Katherine A KA; Rahmattulla, Chinar C; Lee, Keum Hwa KH; Shin, Jae Il JI
Publication Date: 2019-02-21

Variant appearance in text: rs486416
PubMed Link: 30795559
Variant Present in the following documents:
  • jcm-08-00266-s001.pdf
View BVdb publication page



Fine-mapping of HLA class I and class II genes identified two independent novel variants associated with nasopharyngeal carcinoma susceptibility.

Cancer Medicine
Wang, Tong-Min TM; Zhou, Ting T; He, Yong-Qiao YQ; Xue, Wen-Qiong WQ; Zhang, Jiang-Bo JB; Zheng, Xiao-Hui XH; Li, Xi-Zhao XZ; Zhang, Shao-Dan SD; Zeng, Yi-Xin YX; Jia, Wei-Hua WH
Publication Date: 2018-12

Variant appearance in text: rs486416
PubMed Link: 30378292
Variant Present in the following documents:
  • CAM4-7-6308-s006.xlsx, sheet 1
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: EHMT2: 1510-17C>T; rs486416
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits.

Nature Communications
Justice, Anne E AE; Winkler, Thomas W TW; Feitosa, Mary F MF; Graff, Misa M; Fisher, Virginia A VA; Young, Kristin K; Barata, Llilda L; Deng, Xuan X; Czajkowski, Jacek J; Hadley, David D; Ngwa, Julius S JS; Ahluwalia, Tarunveer S TS; Chu, Audrey Y AY; Heard-Costa, Nancy L NL; Lim, Elise E; Perez, Jeremiah J; Eicher, John D JD; Kutalik, Zoltán Z; Xue, Luting L; Mahajan, Anubha A; Renström, Frida F; Wu, Joseph J; Qi, Qibin Q; Ahmad, Shafqat S; Alfred, Tamuno T; Amin, Najaf N; Bielak, Lawrence F LF; Bonnefond, Amelie A; Bragg, Jennifer J; Cadby, Gemma G; Chittani, Martina M; Coggeshall, Scott S; Corre, Tanguy T; Direk, Nese N; Eriksson, Joel J; Fischer, Krista K; Gorski, Mathias M; Neergaard Harder, Marie M; Horikoshi, Momoko M; Huang, Tao T; Huffman, Jennifer E JE; Jackson, Anne U AU; Justesen, Johanne Marie JM; Kanoni, Stavroula S; Kinnunen, Leena L; Kleber, Marcus E ME; Komulainen, Pirjo P; Kumari, Meena M; Lim, Unhee U; Luan, Jian'an J; Lyytikäinen, Leo-Pekka LP; Mangino, Massimo M; Manichaikul, Ani A; Marten, Jonathan J; Middelberg, Rita P S RPS; Müller-Nurasyid, Martina M; Navarro, Pau P; Pérusse, Louis L; Pervjakova, Natalia N; Sarti, Cinzia C; Smith, Albert Vernon AV; Smith, Jennifer A JA; Stančáková, Alena A; Strawbridge, Rona J RJ; Stringham, Heather M HM; Sung, Yun Ju YJ; Tanaka, Toshiko T; Teumer, Alexander A; Trompet, Stella S; van der Laan, Sander W SW; van der Most, Peter J PJ; Van Vliet-Ostaptchouk, Jana V JV; Vedantam, Sailaja L SL; Verweij, Niek N; Vink, Jacqueline M JM; Vitart, Veronique V; Wu, Ying Y; Yengo, Loic L; Zhang, Weihua W; Hua Zhao, Jing J; Zimmermann, Martina E ME; Zubair, Niha N; Abecasis, Gonçalo R GR; Adair, Linda S LS; Afaq, Saima S; Afzal, Uzma U; Bakker, Stephan J L SJL; Bartz, Traci M TM; Beilby, John J; Bergman, Richard N RN; Bergmann, Sven S; Biffar, Reiner R; Blangero, John J; Boerwinkle, Eric E; Bonnycastle, Lori L LL; Bottinger, Erwin E; Braga, Daniele D; Buckley, Brendan M BM; Buyske, Steve S; Campbell, Harry H; Chambers, John C JC; Collins, Francis S FS; Curran, Joanne E JE; de Borst, Gert J GJ; de Craen, Anton J M AJM; de Geus, Eco J C EJC; Dedoussis, George G; Delgado, Graciela E GE; den Ruijter, Hester M HM; Eiriksdottir, Gudny G; Eriksson, Anna L AL; Esko, Tõnu T; Faul, Jessica D JD; Ford, Ian I; Forrester, Terrence T; Gertow, Karl K; Gigante, Bruna B; Glorioso, Nicola N; Gong, Jian J; Grallert, Harald H; Grammer, Tanja B TB; Grarup, Niels N; Haitjema, Saskia S; Hallmans, Göran G; Hamsten, Anders A; Hansen, Torben T; Harris, Tamara B TB; Hartman, Catharina A CA; Hassinen, Maija M; Hastie, Nicholas D ND; Heath, Andrew C AC; Hernandez, Dena D; Hindorff, Lucia L; Hocking, Lynne J LJ; Hollensted, Mette M; Holmen, Oddgeir L OL; Homuth, Georg G; Jan Hottenga, Jouke J; Huang, Jie J; Hung, Joseph J; Hutri-Kähönen, Nina N; Ingelsson, Erik E; James, Alan L AL; Jansson, John-Olov JO; Jarvelin, Marjo-Riitta MR; Jhun, Min A MA; Jørgensen, Marit E ME; Juonala, Markus M; Kähönen, Mika M; Karlsson, Magnus M; Koistinen, Heikki A HA; Kolcic, Ivana I; Kolovou, Genovefa G; Kooperberg, Charles C; Krämer, Bernhard K BK; Kuusisto, Johanna J; Kvaløy, Kirsti K; Lakka, Timo A TA; Langenberg, Claudia C; Launer, Lenore J LJ; Leander, Karin K; Lee, Nanette R NR; Lind, Lars L; Lindgren, Cecilia M CM; Linneberg, Allan A; Lobbens, Stephane S; Loh, Marie M; Lorentzon, Mattias M; Luben, Robert R; Lubke, Gitta G; Ludolph-Donislawski, Anja A; Lupoli, Sara S; Madden, Pamela A F PAF; Männikkö, Reija R; Marques-Vidal, Pedro P; Martin, Nicholas G NG; McKenzie, Colin A CA; McKnight, Barbara B; Mellström, Dan D; Menni, Cristina C; Montgomery, Grant W GW; Musk, Aw Bill AB; Narisu, Narisu N; Nauck, Matthias M; Nolte, Ilja M IM; Oldehinkel, Albertine J AJ; Olden, Matthias M; Ong, Ken K KK; Padmanabhan, Sandosh S; Peyser, Patricia A PA; Pisinger, Charlotta C; Porteous, David J DJ; Raitakari, Olli T OT; Rankinen, Tuomo T; Rao, D C DC; Rasmussen-Torvik, Laura J LJ; Rawal, Rajesh R; Rice, Treva T; Ridker, Paul M PM; Rose, Lynda M LM; Bien, Stephanie A SA; Rudan, Igor I; Sanna, Serena S; Sarzynski, Mark A MA; Sattar, Naveed N; Savonen, Kai K; Schlessinger, David D; Scholtens, Salome S; Schurmann, Claudia C; Scott, Robert A RA; Sennblad, Bengt B; Siemelink, Marten A MA; Silbernagel, Günther G; Slagboom, P Eline PE; Snieder, Harold H; Staessen, Jan A JA; Stott, David J DJ; Swertz, Morris A MA; Swift, Amy J AJ; Taylor, Kent D KD; Tayo, Bamidele O BO; Thorand, Barbara B; Thuillier, Dorothee D; Tuomilehto, Jaakko J; Uitterlinden, Andre G AG; Vandenput, Liesbeth L; Vohl, Marie-Claude MC; Völzke, Henry H; Vonk, Judith M JM; Waeber, Gérard G; Waldenberger, Melanie M; Westendorp, R G J RGJ; Wild, Sarah S; Willemsen, Gonneke G; Wolffenbuttel, Bruce H R BHR; Wong, Andrew A; Wright, Alan F AF; Zhao, Wei W; Zillikens, M Carola MC; Baldassarre, Damiano D; Balkau, Beverley B; Bandinelli, Stefania S; Böger, Carsten A CA; Boomsma, Dorret I DI; Bouchard, Claude C; Bruinenberg, Marcel M; Chasman, Daniel I DI; Chen, Yii-DerIda YD; Chines, Peter S PS; Cooper, Richard S RS; Cucca, Francesco F; Cusi, Daniele D; Faire, Ulf de U; Ferrucci, Luigi L; Franks, Paul W PW; Froguel, Philippe P; Gordon-Larsen, Penny P; Grabe, Hans-Jörgen HJ; Gudnason, Vilmundur V; Haiman, Christopher A CA; Hayward, Caroline C; Hveem, Kristian K; Johnson, Andrew D AD; Wouter Jukema, J J; Kardia, Sharon L R SLR; Kivimaki, Mika M; Kooner, Jaspal S JS; Kuh, Diana D; Laakso, Markku M; Lehtimäki, Terho T; Marchand, Loic Le LL; März, Winfried W; McCarthy, Mark I MI; Metspalu, Andres A; Morris, Andrew P AP; Ohlsson, Claes C; Palmer, Lyle J LJ; Pasterkamp, Gerard G; Pedersen, Oluf O; Peters, Annette A; Peters, Ulrike U; Polasek, Ozren O; Psaty, Bruce M BM; Qi, Lu L; Rauramaa, Rainer R; Smith, Blair H BH; Sørensen, Thorkild I A TIA; Strauch, Konstantin K; Tiemeier, Henning H; Tremoli, Elena E; van der Harst, Pim P; Vestergaard, Henrik H; Vollenweider, Peter P; Wareham, Nicholas J NJ; Weir, David R DR; Whitfield, John B JB; Wilson, James F JF; Tyrrell, Jessica J; Frayling, Timothy M TM; Barroso, Inês I; Boehnke, Michael M; Deloukas, Panagiotis P; Fox, Caroline S CS; Hirschhorn, Joel N JN; Hunter, David J DJ; Spector, Tim D TD; Strachan, David P DP; van Duijn, Cornelia M CM; Heid, Iris M IM; Mohlke, Karen L KL; Marchini, Jonathan J; Loos, Ruth J F RJF; Kilpeläinen, Tuomas O TO; Liu, Ching-Ti CT; Borecki, Ingrid B IB; North, Kari E KE; Cupples, L Adrienne LA
Publication Date: 2017-04-26

Variant appearance in text: rs486416
PubMed Link: 28443625
Variant Present in the following documents:
  • ncomms14977-s1.pdf
View BVdb publication page



Identification of Functional and Expression Polymorphisms Associated With Risk for Antineutrophil Cytoplasmic Autoantibody-Associated Vasculitis.

Arthritis & Rheumatology (Hoboken, N.J.)
Merkel, Peter A PA; Xie, Gang G; Monach, Paul A PA; Ji, Xuemei X; Ciavatta, Dominic J DJ; Byun, Jinyoung J; Pinder, Benjamin D BD; Zhao, Ai A; Zhang, Jinyi J; Tadesse, Yohannes Y; Qian, David D; Weirauch, Matthew M; Nair, Rajan R; Tsoi, Alex A; Pagnoux, Christian C; Carette, Simon S; Chung, Sharon S; Cuthbertson, David D; Davis, John C JC; Dellaripa, Paul F PF; Forbess, Lindsy L; Gewurz-Singer, Ora O; Hoffman, Gary S GS; Khalidi, Nader N; Koening, Curry C; Langford, Carol A CA; Mahr, Alfred D AD; McAlear, Carol C; Moreland, Larry L; Seo, E Philip EP; Specks, Ulrich U; Spiera, Robert F RF; Sreih, Antoine A; St Clair, E William EW; Stone, John H JH; Ytterberg, Steven R SR; Elder, James T JT; Qu, Jia J; Ochi, Toshiki T; Hirano, Naoto N; Edberg, Jeffrey C JC; Falk, Ronald J RJ; Amos, Christopher I CI; Siminovitch, Katherine A KA; ,
Publication Date: 2017-05

Variant appearance in text: rs486416
PubMed Link: 28029757
Variant Present in the following documents:
  • ART-69-1054-s002.pdf
View BVdb publication page



A systematic heritability analysis of the human whole blood transcriptome.

Human Genetics
Huan, Tianxiao T; Liu, Chunyu C; Joehanes, Roby R; Zhang, Xiaoling X; Chen, Brian H BH; Johnson, Andrew D AD; Yao, Chen C; Courchesne, Paul P; O'Donnell, Christopher J CJ; Munson, Peter J PJ; Levy, Daniel D
Publication Date: 2015-03

Variant appearance in text: rs486416
PubMed Link: 25585846
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exon resequencing of H3K9 methyltransferase complex genes, EHMT1, EHTM2 and WIZ, in Japanese autism subjects.

Molecular Autism
Balan, Shabeesh S; Iwayama, Yoshimi Y; Maekawa, Motoko M; Toyota, Tomoko T; Ohnishi, Tetsuo T; Toyoshima, Manabu M; Shimamoto, Chie C; Esaki, Kayoko K; Yamada, Kazuo K; Iwata, Yasuhide Y; Suzuki, Katsuaki K; Ide, Masayuki M; Ota, Motonori M; Fukuchi, Satoshi S; Tsujii, Masatsugu M; Mori, Norio N; Shinkai, Yoichi Y; Yoshikawa, Takeo T
Publication Date: 2014

Variant appearance in text: rs486416
PubMed Link: 25400900
Variant Present in the following documents:
  • 13229_2014_145_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Sex- and age-interacting eQTLs in human complex diseases.

Human Molecular Genetics
Yao, Chen C; Joehanes, Roby R; Johnson, Andrew D AD; Huan, Tianxiao T; Esko, Tõnu T; Ying, Saixia S; Freedman, Jane E JE; Murabito, Joanne J; Lunetta, Kathryn L KL; Metspalu, Andres A; Munson, Peter J PJ; Levy, Daniel D
Publication Date: 2014-04-01

Variant appearance in text: rs486416
PubMed Link: 24242183
Variant Present in the following documents:
  • Main text
View BVdb publication page



Adipose co-expression networks across Finns and Mexicans identify novel triglyceride-associated genes.

Bmc Medical Genomics
Haas, Blake E BE; Horvath, Steve S; Pietiläinen, Kirsi H KH; Cantor, Rita M RM; Nikkola, Elina E; Weissglas-Volkov, Daphna D; Rissanen, Aila A; Civelek, Mete M; Cruz-Bautista, Ivette I; Riba, Laura L; Kuusisto, Johanna J; Kaprio, Jaakko J; Tusie-Luna, Teresa T; Laakso, Markku M; Aguilar-Salinas, Carlos A CA; Pajukanta, Päivi P
Publication Date: 2012-12-06

Variant appearance in text: rs486416
PubMed Link: 23217153
Variant Present in the following documents:
  • Main text
  • 1755-8794-5-61.pdf
View BVdb publication page



Genetic differences between five European populations.

Human Heredity
Moskvina, Valentina V; Smith, Michael M; Ivanov, Dobril D; Blackwood, Douglas D; StClair, David D; Hultman, Christina C; Toncheva, Draga D; Gill, Michael M; Corvin, Aiden A; O'Dushlaine, Colm C; Morris, Derek W DW; Wray, Naomi R NR; Sullivan, Patrick P; Pato, Carlos C; Pato, Michele T MT; Sklar, Pamela P; Purcell, Shaun S; Holmans, Peter P; O'Donovan, Michael C MC; Owen, Michael J MJ; Kirov, George G; ,
Publication Date: 2010

Variant appearance in text: rs486416
PubMed Link: 20616560
Variant Present in the following documents:
  • Main text
View BVdb publication page