HK1 c.64-3695G>A

Variant ID: 10-71099888-G-A

NM_000188.2(HK1):c.64-3695G>A

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Associations of variants In the hexokinase 1 and interleukin 18 receptor regions with oxyhemoglobin saturation during sleep.

Plos Genetics
Cade, Brian E BE; Chen, Han H; Stilp, Adrienne M AM; Louie, Tin T; Ancoli-Israel, Sonia S; Arens, Raanan R; Barfield, Richard R; Below, Jennifer E JE; Cai, Jianwen J; Conomos, Matthew P MP; Evans, Daniel S DS; Frazier-Wood, Alexis C AC; Gharib, Sina A SA; Gleason, Kevin J KJ; Gottlieb, Daniel J DJ; Hillman, David R DR; Johnson, W Craig WC; Lederer, David J DJ; Lee, Jiwon J; Loredo, Jose S JS; Mei, Hao H; Mukherjee, Sutapa S; Patel, Sanjay R SR; Post, Wendy S WS; Purcell, Shaun M SM; Ramos, Alberto R AR; Reid, Kathryn J KJ; Rice, Ken K; Shah, Neomi A NA; Sofer, Tamar T; Taylor, Kent D KD; Thornton, Timothy A TA; Wang, Heming H; Yaffe, Kristine K; Zee, Phyllis C PC; Hanis, Craig L CL; Palmer, Lyle J LJ; Rotter, Jerome I JI; Stone, Katie L KL; Tranah, Gregory J GJ; Wilson, James G JG; Sunyaev, Shamil R SR; Laurie, Cathy C CC; Zhu, Xiaofeng X; Saxena, Richa R; Lin, Xihong X; Redline, Susan S
Publication Date: 2019-04

Variant appearance in text: rs10159477
PubMed Link: 30990817
Variant Present in the following documents:
  • Main text
  • pgen.1007739.pdf
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Generalization and fine mapping of red blood cell trait genetic associations to multi-ethnic populations: The PAGE Study.

American Journal Of Hematology
Jo Hodonsky, Chani C; Schurmann, Claudia C; Schick, Ursula M UM; Kocarnik, Jonathan J; Tao, Ran R; van Rooij, Frank Ja FJ; Wassel, Christina C; Buyske, Steve S; Fornage, Myriam M; Hindorff, Lucia A LA; Floyd, James S JS; Ganesh, Santhi K SK; Lin, Dan-Yu DY; North, Kari E KE; Reiner, Alex P AP; Loos, Ruth Jf RJ; Kooperberg, Charles C; Avery, Christy L CL
Publication Date: 2018-06-15

Variant appearance in text: rs10159477
PubMed Link: 29905378
Variant Present in the following documents:
  • Main text
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Genetic determinants of glycated hemoglobin levels in the Greenlandic Inuit population.

European Journal Of Human Genetics : Ejhg
Appel, Emil V R EVR; Moltke, Ida I; Jørgensen, Marit E ME; Bjerregaard, Peter P; Linneberg, Allan A; Pedersen, Oluf O; Albrechtsen, Anders A; Hansen, Torben T; Grarup, Niels N
Publication Date: 2018-06

Variant appearance in text: rs10159477
PubMed Link: 29483669
Variant Present in the following documents:
  • Main text
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A Mendelian randomization study of the effect of type-2 diabetes on coronary heart disease.

Nature Communications
Ahmad, Omar S OS; Morris, John A JA; Mujammami, Muhammad M; Forgetta, Vincenzo V; Leong, Aaron A; Li, Rui R; Turgeon, Maxime M; Greenwood, Celia M T CM; Thanassoulis, George G; Meigs, James B JB; Sladek, Robert R; Richards, J Brent JB
Publication Date: 2015-05-28

Variant appearance in text: rs10159477
PubMed Link: 26017687
Variant Present in the following documents:
  • ncomms8060-s1.pdf
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Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.

Nature Communications
Benyamin, Beben B; Esko, Tonu T; Ried, Janina S JS; Radhakrishnan, Aparna A; Vermeulen, Sita H SH; Traglia, Michela M; Gögele, Martin M; Anderson, Denise D; Broer, Linda L; Podmore, Clara C; Luan, Jian'an J; Kutalik, Zoltan Z; Sanna, Serena S; van der Meer, Peter P; Tanaka, Toshiko T; Wang, Fudi F; Westra, Harm-Jan HJ; Franke, Lude L; Mihailov, Evelin E; Milani, Lili L; Hälldin, Jonas J; Häldin, Jonas J; Winkelmann, Juliane J; Meitinger, Thomas T; Thiery, Joachim J; Peters, Annette A; Waldenberger, Melanie M; Rendon, Augusto A; Jolley, Jennifer J; Sambrook, Jennifer J; Kiemeney, Lambertus A LA; Sweep, Fred C FC; Sala, Cinzia F CF; Schwienbacher, Christine C; Pichler, Irene I; Hui, Jennie J; Demirkan, Ayse A; Isaacs, Aaron A; Amin, Najaf N; Steri, Maristella M; Waeber, Gérard G; Verweij, Niek N; Powell, Joseph E JE; Nyholt, Dale R DR; Heath, Andrew C AC; Madden, Pamela A F PA; Visscher, Peter M PM; Wright, Margaret J MJ; Montgomery, Grant W GW; Martin, Nicholas G NG; Hernandez, Dena D; Bandinelli, Stefania S; van der Harst, Pim P; Uda, Manuela M; Vollenweider, Peter P; Scott, Robert A RA; Langenberg, Claudia C; Wareham, Nicholas J NJ; , ; van Duijn, Cornelia C; Beilby, John J; Pramstaller, Peter P PP; Hicks, Andrew A AA; Ouwehand, Willem H WH; Oexle, Konrad K; Gieger, Christian C; Metspalu, Andres A; Camaschella, Clara C; Toniolo, Daniela D; Swinkels, Dorine W DW; Whitfield, John B JB
Publication Date: 2014-10-29

Variant appearance in text: rs10159477
PubMed Link: 25352340
Variant Present in the following documents:
  • NIHMS619770-supplement-1.pdf
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Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits.

Nature Genetics
Auer, Paul L PL; Teumer, Alexander A; Schick, Ursula U; O'Shaughnessy, Andrew A; Lo, Ken Sin KS; Chami, Nathalie N; Carlson, Chris C; de Denus, Simon S; Dubé, Marie-Pierre MP; Haessler, Jeff J; Jackson, Rebecca D RD; Kooperberg, Charles C; Perreault, Louis-Philippe Lemieux LP; Nauck, Matthias M; Peters, Ulrike U; Rioux, John D JD; Schmidt, Frank F; Turcot, Valérie V; Völker, Uwe U; Völzke, Henry H; Greinacher, Andreas A; Hsu, Li L; Tardif, Jean-Claude JC; Diaz, George A GA; Reiner, Alexander P AP; Lettre, Guillaume G
Publication Date: 2014-06

Variant appearance in text: rs10159477
PubMed Link: 24777453
Variant Present in the following documents:
  • NIHMS581495-supplement-1.pdf
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Genome-wide association study identifies common loci influencing circulating glycated hemoglobin (HbA1c) levels in non-diabetic subjects: the Long Life Family Study (LLFS).

Metabolism: Clinical And Experimental
An, Ping P; Miljkovic, Iva I; Thyagarajan, Bharat B; Kraja, Aldi T AT; Daw, E Warwick EW; Pankow, James S JS; Selvin, Elizabeth E; Kao, W H Linda WH; Maruthur, Nisa M NM; Nalls, Micahel A MA; Liu, Yongmei Y; Harris, Tamara B TB; Lee, Joseph H JH; Borecki, Ingrid B IB; Christensen, Kaare K; Eckfeldt, John H JH; Mayeux, Richard R; Perls, Thomas T TT; Newman, Anne B AB; Province, Michael A MA
Publication Date: 2014-04

Variant appearance in text: rs10159477
PubMed Link: 24405752
Variant Present in the following documents:
  • Main text
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Seventy-five genetic loci influencing the human red blood cell.

Nature
van der Harst, Pim P; Zhang, Weihua W; Mateo Leach, Irene I; Rendon, Augusto A; Verweij, Niek N; Sehmi, Joban J; Paul, Dirk S DS; Elling, Ulrich U; Allayee, Hooman H; Li, Xinzhong X; Radhakrishnan, Aparna A; Tan, Sian-Tsung ST; Voss, Katrin K; Weichenberger, Christian X CX; Albers, Cornelis A CA; Al-Hussani, Abtehale A; Asselbergs, Folkert W FW; Ciullo, Marina M; Danjou, Fabrice F; Dina, Christian C; Esko, Tõnu T; Evans, David M DM; Franke, Lude L; Gögele, Martin M; Hartiala, Jaana J; Hersch, Micha M; Holm, Hilma H; Hottenga, Jouke-Jan JJ; Kanoni, Stavroula S; Kleber, Marcus E ME; Lagou, Vasiliki V; Langenberg, Claudia C; Lopez, Lorna M LM; Lyytikäinen, Leo-Pekka LP; Melander, Olle O; Murgia, Federico F; Nolte, Ilja M IM; O'Reilly, Paul F PF; Padmanabhan, Sandosh S; Parsa, Afshin A; Pirastu, Nicola N; Porcu, Eleonora E; Portas, Laura L; Prokopenko, Inga I; Ried, Janina S JS; Shin, So-Youn SY; Tang, Clara S CS; Teumer, Alexander A; Traglia, Michela M; Ulivi, Sheila S; Westra, Harm-Jan HJ; Yang, Jian J; Zhao, Jing Hua JH; Anni, Franco F; Abdellaoui, Abdel A; Attwood, Antony A; Balkau, Beverley B; Bandinelli, Stefania S; Bastardot, François F; Benyamin, Beben B; Boehm, Bernhard O BO; Cookson, William O WO; Das, Debashish D; de Bakker, Paul I W PI; de Boer, Rudolf A RA; de Geus, Eco J C EJ; de Moor, Marleen H MH; Dimitriou, Maria M; Domingues, Francisco S FS; Döring, Angela A; Engström, Gunnar G; Eyjolfsson, Gudmundur Ingi GI; Ferrucci, Luigi L; Fischer, Krista K; Galanello, Renzo R; Garner, Stephen F SF; Genser, Bernd B; Gibson, Quince D QD; Girotto, Giorgia G; Gudbjartsson, Daniel Fannar DF; Harris, Sarah E SE; Hartikainen, Anna-Liisa AL; Hastie, Claire E CE; Hedblad, Bo B; Illig, Thomas T; Jolley, Jennifer J; Kähönen, Mika M; Kema, Ido P IP; Kemp, John P JP; Liang, Liming L; Lloyd-Jones, Heather H; Loos, Ruth J F RJ; Meacham, Stuart S; Medland, Sarah E SE; Meisinger, Christa C; Memari, Yasin Y; Mihailov, Evelin E; Miller, Kathy K; Moffatt, Miriam F MF; Nauck, Matthias M; Novatchkova, Maria M; Nutile, Teresa T; Olafsson, Isleifur I; Onundarson, Pall T PT; Parracciani, Debora D; Penninx, Brenda W BW; Perseu, Lucia L; Piga, Antonio A; Pistis, Giorgio G; Pouta, Anneli A; Puc, Ursula U; Raitakari, Olli O; Ring, Susan M SM; Robino, Antonietta A; Ruggiero, Daniela D; Ruokonen, Aimo A; Saint-Pierre, Aude A; Sala, Cinzia C; Salumets, Andres A; Sambrook, Jennifer J; Schepers, Hein H; Schmidt, Carsten Oliver CO; Silljé, Herman H W HH; Sladek, Rob R; Smit, Johannes H JH; Starr, John M JM; Stephens, Jonathan J; Sulem, Patrick P; Tanaka, Toshiko T; Thorsteinsdottir, Unnur U; Tragante, Vinicius V; van Gilst, Wiek H WH; van Pelt, L Joost LJ; van Veldhuisen, Dirk J DJ; Völker, Uwe U; Whitfield, John B JB; Willemsen, Gonneke G; Winkelmann, Bernhard R BR; Wirnsberger, Gerald G; Algra, Ale A; Cucca, Francesco F; d'Adamo, Adamo Pio AP; Danesh, John J; Deary, Ian J IJ; Dominiczak, Anna F AF; Elliott, Paul P; Fortina, Paolo P; Froguel, Philippe P; Gasparini, Paolo P; Greinacher, Andreas A; Hazen, Stanley L SL; Jarvelin, Marjo-Riitta MR; Khaw, Kay Tee KT; Lehtimäki, Terho T; Maerz, Winfried W; Martin, Nicholas G NG; Metspalu, Andres A; Mitchell, Braxton D BD; Montgomery, Grant W GW; Moore, Carmel C; Navis, Gerjan G; Pirastu, Mario M; Pramstaller, Peter P PP; Ramirez-Solis, Ramiro R; Schadt, Eric E; Scott, James J; Shuldiner, Alan R AR; Smith, George Davey GD; Smith, J Gustav JG; Snieder, Harold H; Sorice, Rossella R; Spector, Tim D TD; Stefansson, Kari K; Stumvoll, Michael M; Tang, W H Wilson WH; Toniolo, Daniela D; Tönjes, Anke A; Visscher, Peter M PM; Vollenweider, Peter P; Wareham, Nicholas J NJ; Wolffenbuttel, Bruce H R BH; Boomsma, Dorret I DI; Beckmann, Jacques S JS; Dedoussis, George V GV; Deloukas, Panos P; Ferreira, Manuel A MA; Sanna, Serena S; Uda, Manuela M; Hicks, Andrew A AA; Penninger, Josef Martin JM; Gieger, Christian C; Kooner, Jaspal S JS; Ouwehand, Willem H WH; Soranzo, Nicole N; Chambers, John C JC
Publication Date: 2012-12-20

Variant appearance in text: rs10159477
PubMed Link: 23222517
Variant Present in the following documents:
  • Main text
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Sequence variants in three loci influence monocyte counts and erythrocyte volume.

American Journal Of Human Genetics
Ferreira, Manuel A R MA; Hottenga, Jouke-Jan JJ; Warrington, Nicole M NM; Medland, Sarah E SE; Willemsen, Gonneke G; Lawrence, Robert W RW; Gordon, Scott S; de Geus, Eco J C EJ; Henders, Anjali K AK; Smit, Johannes H JH; Campbell, Megan J MJ; Wallace, Leanne L; Evans, David M DM; Wright, Margaret J MJ; Nyholt, Dale R DR; James, Alan L AL; Beilby, John P JP; Penninx, Brenda W BW; Palmer, Lyle J LJ; Frazer, Ian H IH; Montgomery, Grant W GW; Martin, Nicholas G NG; Boomsma, Dorret I DI
Publication Date: 2009-11

Variant appearance in text: rs10159477
PubMed Link: 19853236
Variant Present in the following documents:
  • Main text
View BVdb publication page