KDF1 c.-33+1928G>T

Variant ID: 1-27284913-C-A

NM_152365.3(KDF1):c.-33+1928G>T

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants.

Nature Genetics
Aragam, Krishna G KG; Jiang, Tao T; Goel, Anuj A; Kanoni, Stavroula S; Wolford, Brooke N BN; Atri, Deepak S DS; Weeks, Elle M EM; Wang, Minxian M; Hindy, George G; Zhou, Wei W; Grace, Christopher C; Roselli, Carolina C; Marston, Nicholas A NA; Kamanu, Frederick K FK; Surakka, Ida I; Venegas, Loreto Muñoz LM; Sherliker, Paul P; Koyama, Satoshi S; Ishigaki, Kazuyoshi K; Åsvold, Bjørn O BO; Brown, Michael R MR; Brumpton, Ben B; de Vries, Paul S PS; Giannakopoulou, Olga O; Giardoglou, Panagiota P; Gudbjartsson, Daniel F DF; Güldener, Ulrich U; Haider, Syed M Ijlal SMI; Helgadottir, Anna A; Ibrahim, Maysson M; Kastrati, Adnan A; Kessler, Thorsten T; Kyriakou, Theodosios T; Konopka, Tomasz T; Li, Ling L; Ma, Lijiang L; Meitinger, Thomas T; Mucha, Sören S; Munz, Matthias M; Murgia, Federico F; Nielsen, Jonas B JB; Nöthen, Markus M MM; Pang, Shichao S; Reinberger, Tobias T; Schnitzler, Gavin G; Smedley, Damian D; Thorleifsson, Gudmar G; von Scheidt, Moritz M; Ulirsch, Jacob C JC; , ; , ; Arnar, David O DO; Burtt, Noël P NP; Costanzo, Maria C MC; Flannick, Jason J; Ito, Kaoru K; Jang, Dong-Keun DK; Kamatani, Yoichiro Y; Khera, Amit V AV; Komuro, Issei I; Kullo, Iftikhar J IJ; Lotta, Luca A LA; Nelson, Christopher P CP; Roberts, Robert R; Thorgeirsson, Gudmundur G; Thorsteinsdottir, Unnur U; Webb, Thomas R TR; Baras, Aris A; Björkegren, Johan L M JLM; Boerwinkle, Eric E; Dedoussis, George G; Holm, Hilma H; Hveem, Kristian K; Melander, Olle O; Morrison, Alanna C AC; Orho-Melander, Marju M; Rallidis, Loukianos S LS; Ruusalepp, Arno A; Sabatine, Marc S MS; Stefansson, Kari K; Zalloua, Pierre P; Ellinor, Patrick T PT; Farrall, Martin M; Danesh, John J; Ruff, Christian T CT; Finucane, Hilary K HK; Hopewell, Jemma C JC; Clarke, Robert R; Gupta, Rajat M RM; Erdmann, Jeanette J; Samani, Nilesh J NJ; Schunkert, Heribert H; Watkins, Hugh H; Willer, Cristen J CJ; Deloukas, Panos P; Kathiresan, Sekar S; Butterworth, Adam S AS; ,
Publication Date: 2022-12

Variant appearance in text: rs79598313
PubMed Link: 36474045
Variant Present in the following documents:
  • Main text
  • 41588_2022_Article_1233.pdf
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Blood pressure lowering and risk of new-onset type 2 diabetes: an individual participant data meta-analysis.

Lancet (London, England)
Nazarzadeh, Milad M; Bidel, Zeinab Z; Canoy, Dexter D; Copland, Emma E; Wamil, Malgorzata M; Majert, Jeannette J; Smith Byrne, Karl K; Sundström, Johan J; Teo, Koon K; Davis, Barry R BR; Chalmers, John J; Pepine, Carl J CJ; Dehghan, Abbas A; Bennett, Derrick A DA; Smith, George Davey GD; Rahimi, Kazem K; ,
Publication Date: 2021-11-13

Variant appearance in text: rs79598313
PubMed Link: 34774144
Variant Present in the following documents:
  • mmc1.pdf
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Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases.

Nature Communications
Georges, Adrien A; Yang, Min-Lee ML; Berrandou, Takiy-Eddine TE; Bakker, Mark K MK; Dikilitas, Ozan O; Kiando, Soto Romuald SR; Ma, Lijiang L; Satterfield, Benjamin A BA; Sengupta, Sebanti S; Yu, Mengyao M; Deleuze, Jean-François JF; Dupré, Delia D; Hunker, Kristina L KL; Kyryachenko, Sergiy S; Liu, Lu L; Sayoud-Sadeg, Ines I; Amar, Laurence L; Brummett, Chad M CM; Coleman, Dawn M DM; d'Escamard, Valentina V; de Leeuw, Peter P; Fendrikova-Mahlay, Natalia N; Kadian-Dodov, Daniella D; Li, Jun Z JZ; Lorthioir, Aurélien A; Pappaccogli, Marco M; Prejbisz, Aleksander A; Smigielski, Witold W; Stanley, James C JC; Zawistowski, Matthew M; Zhou, Xiang X; Zöllner, Sebastian S; , ; , ; , ; Amouyel, Philippe P; De Buyzere, Marc L ML; Debette, Stéphanie S; Dobrowolski, Piotr P; Drygas, Wojciech W; Gornik, Heather L HL; Olin, Jeffrey W JW; Piwonski, Jerzy J; Rietzschel, Ernst R ER; Ruigrok, Ynte M YM; Vikkula, Miikka M; Warchol Celinska, Ewa E; Januszewicz, Andrzej A; Kullo, Iftikhar J IJ; Azizi, Michel M; Jeunemaitre, Xavier X; Persu, Alexandre A; Kovacic, Jason C JC; Ganesh, Santhi K SK; Bouatia-Naji, Nabila N
Publication Date: 2021-10-15

Variant appearance in text: rs79598313
PubMed Link: 34654805
Variant Present in the following documents:
  • 41467_2021_26174_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases.

Nature Communications
Georges, Adrien A; Yang, Min-Lee ML; Berrandou, Takiy-Eddine TE; Bakker, Mark K MK; Dikilitas, Ozan O; Kiando, Soto Romuald SR; Ma, Lijiang L; Satterfield, Benjamin A BA; Sengupta, Sebanti S; Yu, Mengyao M; Deleuze, Jean-François JF; Dupré, Delia D; Hunker, Kristina L KL; Kyryachenko, Sergiy S; Liu, Lu L; Sayoud-Sadeg, Ines I; Amar, Laurence L; Brummett, Chad M CM; Coleman, Dawn M DM; d'Escamard, Valentina V; de Leeuw, Peter P; Fendrikova-Mahlay, Natalia N; Kadian-Dodov, Daniella D; Li, Jun Z JZ; Lorthioir, Aurélien A; Pappaccogli, Marco M; Prejbisz, Aleksander A; Smigielski, Witold W; Stanley, James C JC; Zawistowski, Matthew M; Zhou, Xiang X; Zöllner, Sebastian S; , ; , ; , ; Amouyel, Philippe P; De Buyzere, Marc L ML; Debette, Stéphanie S; Dobrowolski, Piotr P; Drygas, Wojciech W; Gornik, Heather L HL; Olin, Jeffrey W JW; Piwonski, Jerzy J; Rietzschel, Ernst R ER; Ruigrok, Ynte M YM; Vikkula, Miikka M; Warchol Celinska, Ewa E; Januszewicz, Andrzej A; Kullo, Iftikhar J IJ; Azizi, Michel M; , ; Jeunemaitre, Xavier X; Persu, Alexandre A; Kovacic, Jason C JC; Ganesh, Santhi K SK; Bouatia-Naji, Nabila N
Publication Date: 2021-10-15

Variant appearance in text: rs79598313
PubMed Link: 34654805
Variant Present in the following documents:
  • 41467_2021_26174_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.

Nature Communications
Nielsen, Jonas B JB; Rom, Oren O; Surakka, Ida I; Graham, Sarah E SE; Zhou, Wei W; Roychowdhury, Tanmoy T; Fritsche, Lars G LG; Gagliano Taliun, Sarah A SA; Sidore, Carlo C; Liu, Yuhao Y; Gabrielsen, Maiken E ME; Skogholt, Anne Heidi AH; Wolford, Brooke B; Overton, William W; Zhao, Ying Y; Chen, Jin J; Zhang, He H; Hornsby, Whitney E WE; Acheampong, Akua A; Grooms, Austen A; Schaefer, Amanda A; Zajac, Gregory J M GJM; Villacorta, Luis L; Zhang, Jifeng J; Brumpton, Ben B; Løset, Mari M; Rai, Vivek V; Lundegaard, Pia R PR; Olesen, Morten S MS; Taylor, Kent D KD; Palmer, Nicholette D ND; Chen, Yii-Der YD; Choi, Seung H SH; Lubitz, Steven A SA; Ellinor, Patrick T PT; Barnes, Kathleen C KC; Daya, Michelle M; Rafaels, Nicholas N; Weiss, Scott T ST; Lasky-Su, Jessica J; Tracy, Russell P RP; Vasan, Ramachandran S RS; Cupples, L Adrienne LA; Mathias, Rasika A RA; Yanek, Lisa R LR; Becker, Lewis C LC; Peyser, Patricia A PA; Bielak, Lawrence F LF; Smith, Jennifer A JA; Aslibekyan, Stella S; Hidalgo, Bertha A BA; Arnett, Donna K DK; Irvin, Marguerite R MR; Wilson, James G JG; Musani, Solomon K SK; Correa, Adolfo A; Rich, Stephen S SS; Guo, Xiuqing X; Rotter, Jerome I JI; Konkle, Barbara A BA; Johnsen, Jill M JM; Ashley-Koch, Allison E AE; Telen, Marilyn J MJ; Sheehan, Vivien A VA; Blangero, John J; Curran, Joanne E JE; Peralta, Juan M JM; Montgomery, Courtney C; Sheu, Wayne H-H WH; Chung, Ren-Hua RH; Schwander, Karen K; Nouraie, Seyed M SM; Gordeuk, Victor R VR; Zhang, Yingze Y; Kooperberg, Charles C; Reiner, Alexander P AP; Jackson, Rebecca D RD; Bleecker, Eugene R ER; Meyers, Deborah A DA; Li, Xingnan X; Das, Sayantan S; Yu, Ketian K; LeFaive, Jonathon J; Smith, Albert A; Blackwell, Tom T; Taliun, Daniel D; Zollner, Sebastian S; Forer, Lukas L; Schoenherr, Sebastian S; Fuchsberger, Christian C; Pandit, Anita A; Zawistowski, Matthew M; Kheterpal, Sachin S; Brummett, Chad M CM; Natarajan, Pradeep P; Schlessinger, David D; Lee, Seunggeun S; Kang, Hyun Min HM; Cucca, Francesco F; Holmen, Oddgeir L OL; Åsvold, Bjørn O BO; Boehnke, Michael M; Kathiresan, Sekar S; Abecasis, Goncalo R GR; Chen, Y Eugene YE; Willer, Cristen J CJ; Hveem, Kristian K
Publication Date: 2020-12-18

Variant appearance in text: rs79598313
PubMed Link: 33339817
Variant Present in the following documents:
  • 41467_2020_20086_MOESM4_ESM.xlsx, sheet 2
  • 41467_2020_20086_MOESM4_ESM.xlsx, sheet 4
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Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

Nature Genetics
Tin, Adrienne A; Marten, Jonathan J; Halperin Kuhns, Victoria L VL; Li, Yong Y; Wuttke, Matthias M; Kirsten, Holger H; Sieber, Karsten B KB; Qiu, Chengxiang C; Gorski, Mathias M; Yu, Zhi Z; Giri, Ayush A; Sveinbjornsson, Gardar G; Li, Man M; Chu, Audrey Y AY; Hoppmann, Anselm A; O'Connor, Luke J LJ; Prins, Bram B; Nutile, Teresa T; Noce, Damia D; Akiyama, Masato M; Cocca, Massimiliano M; Ghasemi, Sahar S; van der Most, Peter J PJ; Horn, Katrin K; Xu, Yizhe Y; Fuchsberger, Christian C; Sedaghat, Sanaz S; Afaq, Saima S; Amin, Najaf N; Ärnlöv, Johan J; Bakker, Stephan J L SJL; Bansal, Nisha N; Baptista, Daniela D; Bergmann, Sven S; Biggs, Mary L ML; Biino, Ginevra G; Boerwinkle, Eric E; Bottinger, Erwin P EP; Boutin, Thibaud S TS; Brumat, Marco M; Burkhardt, Ralph R; Campana, Eric E; Campbell, Archie A; Campbell, Harry H; Carroll, Robert J RJ; Catamo, Eulalia E; Chambers, John C JC; Ciullo, Marina M; Concas, Maria Pina MP; Coresh, Josef J; Corre, Tanguy T; Cusi, Daniele D; Felicita, Sala Cinzia SC; de Borst, Martin H MH; De Grandi, Alessandro A; de Mutsert, Renée R; de Vries, Aiko P J APJ; Delgado, Graciela G; Demirkan, Ayşe A; Devuyst, Olivier O; Dittrich, Katalin K; Eckardt, Kai-Uwe KU; Ehret, Georg G; Endlich, Karlhans K; Evans, Michele K MK; Gansevoort, Ron T RT; Gasparini, Paolo P; Giedraitis, Vilmantas V; Gieger, Christian C; Girotto, Giorgia G; Gögele, Martin M; Gordon, Scott D SD; Gudbjartsson, Daniel F DF; Gudnason, Vilmundur V; , ; Haller, Toomas T; Hamet, Pavel P; Harris, Tamara B TB; Hayward, Caroline C; Hicks, Andrew A AA; Hofer, Edith E; Holm, Hilma H; Huang, Wei W; Hutri-Kähönen, Nina N; Hwang, Shih-Jen SJ; Ikram, M Arfan MA; Lewis, Raychel M RM; Ingelsson, Erik E; Jakobsdottir, Johanna J; Jonsdottir, Ingileif I; Jonsson, Helgi H; Joshi, Peter K PK; Josyula, Navya Shilpa NS; Jung, Bettina B; Kähönen, Mika M; Kamatani, Yoichiro Y; Kanai, Masahiro M; Kerr, Shona M SM; Kiess, Wieland W; Kleber, Marcus E ME; Koenig, Wolfgang W; Kooner, Jaspal S JS; Körner, Antje A; Kovacs, Peter P; Krämer, Bernhard K BK; Kronenberg, Florian F; Kubo, Michiaki M; Kühnel, Brigitte B; La Bianca, Martina M; Lange, Leslie A LA; Lehne, Benjamin B; Lehtimäki, Terho T; , ; Liu, Jun J; Loeffler, Markus M; Loos, Ruth J F RJF; Lyytikäinen, Leo-Pekka LP; Magi, Reedik R; Mahajan, Anubha A; Martin, Nicholas G NG; März, Winfried W; Mascalzoni, Deborah D; Matsuda, Koichi K; Meisinger, Christa C; Meitinger, Thomas T; Metspalu, Andres A; Milaneschi, Yuri Y; , ; O'Donnell, Christopher J CJ; Wilson, Otis D OD; Gaziano, J Michael JM; Mishra, Pashupati P PP; Mohlke, Karen L KL; Mononen, Nina N; Montgomery, Grant W GW; Mook-Kanamori, Dennis O DO; Müller-Nurasyid, Martina M; Nadkarni, Girish N GN; Nalls, Mike A MA; Nauck, Matthias M; Nikus, Kjell K; Ning, Boting B; Nolte, Ilja M IM; Noordam, Raymond R; O'Connell, Jeffrey R JR; Olafsson, Isleifur I; Padmanabhan, Sandosh S; Penninx, Brenda W J H BWJH; Perls, Thomas T; Peters, Annette A; Pirastu, Mario M; Pirastu, Nicola N; Pistis, Giorgio G; Polasek, Ozren O; Ponte, Belen B; Porteous, David J DJ; Poulain, Tanja T; Preuss, Michael H MH; Rabelink, Ton J TJ; Raffield, Laura M LM; Raitakari, Olli T OT; Rettig, Rainer R; Rheinberger, Myriam M; Rice, Kenneth M KM; Rizzi, Federica F; Robino, Antonietta A; Rudan, Igor I; Krajcoviechova, Alena A; Cifkova, Renata R; Rueedi, Rico R; Ruggiero, Daniela D; Ryan, Kathleen A KA; Saba, Yasaman Y; Salvi, Erika E; Schmidt, Helena H; Schmidt, Reinhold R; Shaffer, Christian M CM; Smith, Albert V AV; Smith, Blair H BH; Spracklen, Cassandra N CN; Strauch, Konstantin K; Stumvoll, Michael M; Sulem, Patrick P; Tajuddin, Salman M SM; Teren, Andrej A; Thiery, Joachim J; Thio, Chris H L CHL; Thorsteinsdottir, Unnur U; Toniolo, Daniela D; Tönjes, Anke A; Tremblay, Johanne J; Uitterlinden, André G AG; Vaccargiu, Simona S; van der Harst, Pim P; van Duijn, Cornelia M CM; Verweij, Niek N; Völker, Uwe U; Vollenweider, Peter P; Waeber, Gerard G; Waldenberger, Melanie M; Whitfield, John B JB; Wild, Sarah H SH; Wilson, James F JF; Yang, Qiong Q; Zhang, Weihua W; Zonderman, Alan B AB; Bochud, Murielle M; Wilson, James G JG; Pendergrass, Sarah A SA; Ho, Kevin K; Parsa, Afshin A; Pramstaller, Peter P PP; Psaty, Bruce M BM; Böger, Carsten A CA; Snieder, Harold H; Butterworth, Adam S AS; Okada, Yukinori Y; Edwards, Todd L TL; Stefansson, Kari K; Susztak, Katalin K; Scholz, Markus M; Heid, Iris M IM; Hung, Adriana M AM; Teumer, Alexander A; Pattaro, Cristian C; Woodward, Owen M OM; Vitart, Veronique V; Köttgen, Anna A
Publication Date: 2019-10

Variant appearance in text: rs79598313
PubMed Link: 31578528
Variant Present in the following documents:
  • NIHMS1538428-supplement-2.pdf
View BVdb publication page



Hypertension genomics and cardiovascular prevention.

Annals Of Translational Medicine
Ng, Fu Liang FL; Warren, Helen R HR; Caulfield, Mark J MJ
Publication Date: 2018-08

Variant appearance in text: rs79598313
PubMed Link: 30211179
Variant Present in the following documents:
  • Main text
View BVdb publication page