KCNJ16 c.-299-6592C>T

Variant ID: 17-68090207-C-T

NM_170741.4(KCNJ16):c.-299-6592C>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: rs11867479
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Birthweight, BMI in adulthood and latent autoimmune diabetes in adults: a Mendelian randomisation study.

Diabetologia
Wei, Yuxia Y; Zhan, Yiqiang Y; Löfvenborg, Josefin E JE; Tuomi, Tiinamaija T; Carlsson, Sofia S
Publication Date: 2022-09

Variant appearance in text: rs11867479
PubMed Link: 35606578
Variant Present in the following documents:
  • 125_2022_5725_MOESM1_ESM.pdf
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Height, body mass index, and socioeconomic status: mendelian randomisation study in UK Biobank.

Bmj (Clinical Research Ed.)
Tyrrell, Jessica J; Jones, Samuel E SE; Beaumont, Robin R; Astley, Christina M CM; Lovell, Rebecca R; Yaghootkar, Hanieh H; Tuke, Marcus M; Ruth, Katherine S KS; Freathy, Rachel M RM; Hirschhorn, Joel N JN; Wood, Andrew R AR; Murray, Anna A; Weedon, Michael N MN; Frayling, Timothy M TM
Publication Date: 2016-03-08

Variant appearance in text: rs11867479
PubMed Link: 26956984
Variant Present in the following documents:
  • tyrj029564.ww1_default.pdf
View BVdb publication page



Insight in genome-wide association of metabolite quantitative traits by exome sequence analyses.

Plos Genetics
Demirkan, Ayşe A; Henneman, Peter P; Verhoeven, Aswin A; Dharuri, Harish H; Amin, Najaf N; van Klinken, Jan Bert JB; Karssen, Lennart C LC; de Vries, Boukje B; Meissner, Axel A; Göraler, Sibel S; van den Maagdenberg, Arn M J M AM; Deelder, André M AM; C 't Hoen, Peter A PA; van Duijn, Cornelia M CM; van Dijk, Ko Willems KW
Publication Date: 2015-01

Variant appearance in text: rs11867479
PubMed Link: 25569235
Variant Present in the following documents:
  • pgen.1004835.s003.pdf
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A novel common variant in DCST2 is associated with length in early life and height in adulthood.

Human Molecular Genetics
van der Valk, Ralf J P RJ; Kreiner-Møller, Eskil E; Kooijman, Marjolein N MN; Guxens, Mònica M; Stergiakouli, Evangelia E; Sääf, Annika A; Bradfield, Jonathan P JP; Geller, Frank F; Hayes, M Geoffrey MG; Cousminer, Diana L DL; Körner, Antje A; Thiering, Elisabeth E; Curtin, John A JA; Myhre, Ronny R; Huikari, Ville V; Joro, Raimo R; Kerkhof, Marjan M; Warrington, Nicole M NM; Pitkänen, Niina N; Ntalla, Ioanna I; Horikoshi, Momoko M; Veijola, Riitta R; Freathy, Rachel M RM; Teo, Yik-Ying YY; Barton, Sheila J SJ; Evans, David M DM; Kemp, John P JP; St Pourcain, Beate B; Ring, Susan M SM; Davey Smith, George G; Bergström, Anna A; Kull, Inger I; Hakonarson, Hakon H; Mentch, Frank D FD; Bisgaard, Hans H; Chawes, Bo B; Stokholm, Jakob J; Waage, Johannes J; Eriksen, Patrick P; Sevelsted, Astrid A; Melbye, Mads M; , ; van Duijn, Cornelia M CM; Medina-Gomez, Carolina C; Hofman, Albert A; de Jongste, Johan C JC; Taal, H Rob HR; Uitterlinden, André G AG; , ; Armstrong, Loren L LL; Eriksson, Johan J; Palotie, Aarno A; Bustamante, Mariona M; Estivill, Xavier X; Gonzalez, Juan R JR; Llop, Sabrina S; Kiess, Wieland W; Mahajan, Anubha A; Flexeder, Claudia C; Tiesler, Carla M T CM; Murray, Clare S CS; Simpson, Angela A; Magnus, Per P; Sengpiel, Verena V; Hartikainen, Anna-Liisa AL; Keinanen-Kiukaanniemi, Sirkka S; Lewin, Alexandra A; Da Silva Couto Alves, Alexessander A; Blakemore, Alexandra I AI; Buxton, Jessica L JL; Kaakinen, Marika M; Rodriguez, Alina A; Sebert, Sylvain S; Vaarasmaki, Marja M; Lakka, Timo T; Lindi, Virpi V; Gehring, Ulrike U; Postma, Dirkje S DS; Ang, Wei W; Newnham, John P JP; Lyytikäinen, Leo-Pekka LP; Pahkala, Katja K; Raitakari, Olli T OT; Panoutsopoulou, Kalliope K; Zeggini, Eleftheria E; Boomsma, Dorret I DI; Groen-Blokhuis, Maria M; Ilonen, Jorma J; Franke, Lude L; Hirschhorn, Joel N JN; Pers, Tune H TH; Liang, Liming L; Huang, Jinyan J; Hocher, Berthold B; Knip, Mikael M; Saw, Seang-Mei SM; Holloway, John W JW; Melén, Erik E; Grant, Struan F A SF; Feenstra, Bjarke B; Lowe, William L WL; Widén, Elisabeth E; Sergeyev, Elena E; Grallert, Harald H; Custovic, Adnan A; Jacobsson, Bo B; Jarvelin, Marjo-Riitta MR; Atalay, Mustafa M; Koppelman, Gerard H GH; Pennell, Craig E CE; Niinikoski, Harri H; Dedoussis, George V GV; Mccarthy, Mark I MI; Frayling, Timothy M TM; Sunyer, Jordi J; Timpson, Nicholas J NJ; Rivadeneira, Fernando F; Bønnelykke, Klaus K; Jaddoe, Vincent W V VW; ,
Publication Date: 2015-02-15

Variant appearance in text: rs11867479
PubMed Link: 25281659
Variant Present in the following documents:
  • supp_ddu510_ddu510supp.pdf
View BVdb publication page



Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.

Nature Genetics
Soler Artigas, María M; Loth, Daan W DW; Wain, Louise V LV; Gharib, Sina A SA; Obeidat, Ma'en M; Tang, Wenbo W; Zhai, Guangju G; Zhao, Jing Hua JH; Smith, Albert Vernon AV; Huffman, Jennifer E JE; Albrecht, Eva E; Jackson, Catherine M CM; Evans, David M DM; Cadby, Gemma G; Fornage, Myriam M; Manichaikul, Ani A; Lopez, Lorna M LM; Johnson, Toby T; Aldrich, Melinda C MC; Aspelund, Thor T; Barroso, Inês I; Campbell, Harry H; Cassano, Patricia A PA; Couper, David J DJ; Eiriksdottir, Gudny G; Franceschini, Nora N; Garcia, Melissa M; Gieger, Christian C; Gislason, Gauti Kjartan GK; Grkovic, Ivica I; Hammond, Christopher J CJ; Hancock, Dana B DB; Harris, Tamara B TB; Ramasamy, Adaikalavan A; Heckbert, Susan R SR; Heliövaara, Markku M; Homuth, Georg G; Hysi, Pirro G PG; James, Alan L AL; Jankovic, Stipan S; Joubert, Bonnie R BR; Karrasch, Stefan S; Klopp, Norman N; Koch, Beate B; Kritchevsky, Stephen B SB; Launer, Lenore J LJ; Liu, Yongmei Y; Loehr, Laura R LR; Lohman, Kurt K; Loos, Ruth J F RJ; Lumley, Thomas T; Al Balushi, Khalid A KA; Ang, Wei Q WQ; Barr, R Graham RG; Beilby, John J; Blakey, John D JD; Boban, Mladen M; Boraska, Vesna V; Brisman, Jonas J; Britton, John R JR; Brusselle, Guy G GG; Cooper, Cyrus C; Curjuric, Ivan I; Dahgam, Santosh S; Deary, Ian J IJ; Ebrahim, Shah S; Eijgelsheim, Mark M; Francks, Clyde C; Gaysina, Darya D; Granell, Raquel R; Gu, Xiangjun X; Hankinson, John L JL; Hardy, Rebecca R; Harris, Sarah E SE; Henderson, John J; Henry, Amanda A; Hingorani, Aroon D AD; Hofman, Albert A; Holt, Patrick G PG; Hui, Jennie J; Hunter, Michael L ML; Imboden, Medea M; Jameson, Karen A KA; Kerr, Shona M SM; Kolcic, Ivana I; Kronenberg, Florian F; Liu, Jason Z JZ; Marchini, Jonathan J; McKeever, Tricia T; Morris, Andrew D AD; Olin, Anna-Carin AC; Porteous, David J DJ; Postma, Dirkje S DS; Rich, Stephen S SS; Ring, Susan M SM; Rivadeneira, Fernando F; Rochat, Thierry T; Sayer, Avan Aihie AA; Sayers, Ian I; Sly, Peter D PD; Smith, George Davey GD; Sood, Akshay A; Starr, John M JM; Uitterlinden, André G AG; Vonk, Judith M JM; Wannamethee, S Goya SG; Whincup, Peter H PH; Wijmenga, Cisca C; Williams, O Dale OD; Wong, Andrew A; Mangino, Massimo M; Marciante, Kristin D KD; McArdle, Wendy L WL; Meibohm, Bernd B; Morrison, Alanna C AC; North, Kari E KE; Omenaas, Ernst E; Palmer, Lyle J LJ; Pietiläinen, Kirsi H KH; Pin, Isabelle I; Pola Sbreve Ek, Ozren O; Pouta, Anneli A; Psaty, Bruce M BM; Hartikainen, Anna-Liisa AL; Rantanen, Taina T; Ripatti, Samuli S; Rotter, Jerome I JI; Rudan, Igor I; Rudnicka, Alicja R AR; Schulz, Holger H; Shin, So-Youn SY; Spector, Tim D TD; Surakka, Ida I; Vitart, Veronique V; Völzke, Henry H; Wareham, Nicholas J NJ; Warrington, Nicole M NM; Wichmann, H-Erich HE; Wild, Sarah H SH; Wilk, Jemma B JB; Wjst, Matthias M; Wright, Alan F AF; Zgaga, Lina L; Zemunik, Tatijana T; Pennell, Craig E CE; Nyberg, Fredrik F; Kuh, Diana D; Holloway, John W JW; Boezen, H Marike HM; Lawlor, Debbie A DA; Morris, Richard W RW; Probst-Hensch, Nicole N; , ; , ; Kaprio, Jaakko J; Wilson, James F JF; Hayward, Caroline C; Kähönen, Mika M; Heinrich, Joachim J; Musk, Arthur W AW; Jarvis, Deborah L DL; Gläser, Sven S; Järvelin, Marjo-Riitta MR; Ch Stricker, Bruno H BH; Elliott, Paul P; O'Connor, George T GT; Strachan, David P DP; London, Stephanie J SJ; Hall, Ian P IP; Gudnason, Vilmundur V; Tobin, Martin D MD
Publication Date: 2011-09-25

Variant appearance in text: rs11867479
PubMed Link: 21946350
Variant Present in the following documents:
  • NIHMS335195-supplement-4.pdf
View BVdb publication page