PHIP c.4630+241C>T

Variant ID: 6-79655477-G-A

NM_017934.5(PHIP):c.4630+241C>T

This variant was identified in 6 publications

View GRCh38 version.




Publications:


A genome-wide association and replication study of blood pressure in Ugandan early adolescents.

Molecular Genetics & Genomic Medicine
Lule, Swaib A SA; Mentzer, Alexander J AJ; Namara, Benigna B; Muwenzi, Allan G AG; Nassanga, Beatrice B; Kizito, Dennison D; Akurut, Helen H; Lubyayi, Lawrence L; Tumusiime, Josephine J; Zziwa, Christopher C; Akello, Florence F; Gurdasani, Deept D; Sandhu, Manjinder M; Smeeth, Liam L; Elliott, Alison M AM; Webb, Emily L EL
Publication Date: 2019-10

Variant appearance in text: rs10943605
PubMed Link: 31469255
Variant Present in the following documents:
  • Main text
  • MGG3-7-e00950.pdf
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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: PHIP: 4630+241C>T; rs10943605
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
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Brief Overview of a Decade of Genome-Wide Association Studies on Primary Hypertension.

International Journal Of Endocrinology
Azam, Afifah Binti AB; Azizan, Elena Aisha Binti EAB
Publication Date: 2018

Variant appearance in text: rs10943605
PubMed Link: 29666641
Variant Present in the following documents:
  • Main text
  • IJE2018-7259704.pdf
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Genome-Wide Association Study of Blood Pressure Traits by Hispanic/Latino Background: the Hispanic Community Health Study/Study of Latinos.

Scientific Reports
Sofer, Tamar T; Wong, Quenna Q; Hartwig, Fernando P FP; Taylor, Kent K; Warren, Helen R HR; Evangelou, Evangelos E; Cabrera, Claudia P CP; Levy, Daniel D; Kramer, Holly H; Lange, Leslie A LA; Horta, Bernardo L BL; , ; Kerr, Kathleen F KF; Reiner, Alex P AP; Franceschini, Nora N
Publication Date: 2017-09-04

Variant appearance in text: rs10943605
PubMed Link: 28871152
Variant Present in the following documents:
  • 41598_2017_9019_MOESM1_ESM.pdf
View BVdb publication page



Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.

Hypertension (Dallas, Tex. : 1979)
Wain, Louise V LV; Vaez, Ahmad A; Jansen, Rick R; Joehanes, Roby R; van der Most, Peter J PJ; Erzurumluoglu, A Mesut AM; O'Reilly, Paul F PF; Cabrera, Claudia P CP; Warren, Helen R HR; Rose, Lynda M LM; Verwoert, Germaine C GC; Hottenga, Jouke-Jan JJ; Strawbridge, Rona J RJ; Esko, Tonu T; Arking, Dan E DE; Hwang, Shih-Jen SJ; Guo, Xiuqing X; Kutalik, Zoltan Z; Trompet, Stella S; Shrine, Nick N; Teumer, Alexander A; Ried, Janina S JS; Bis, Joshua C JC; Smith, Albert V AV; Amin, Najaf N; Nolte, Ilja M IM; Lyytikäinen, Leo-Pekka LP; Mahajan, Anubha A; Wareham, Nicholas J NJ; Hofer, Edith E; Joshi, Peter K PK; Kristiansson, Kati K; Traglia, Michela M; Havulinna, Aki S AS; Goel, Anuj A; Nalls, Mike A MA; Sõber, Siim S; Vuckovic, Dragana D; Luan, Jian'an J; Del Greco M, Fabiola F; Ayers, Kristin L KL; Marrugat, Jaume J; Ruggiero, Daniela D; Lopez, Lorna M LM; Niiranen, Teemu T; Enroth, Stefan S; Jackson, Anne U AU; Nelson, Christopher P CP; Huffman, Jennifer E JE; Zhang, Weihua W; Marten, Jonathan J; Gandin, Ilaria I; Harris, Sarah E SE; Zemunik, Tatijana T; Lu, Yingchang Y; Evangelou, Evangelos E; Shah, Nabi N; de Borst, Martin H MH; Mangino, Massimo M; Prins, Bram P BP; Campbell, Archie A; Li-Gao, Ruifang R; Chauhan, Ganesh G; Oldmeadow, Christopher C; Abecasis, Gonçalo G; Abedi, Maryam M; Barbieri, Caterina M CM; Barnes, Michael R MR; Batini, Chiara C; Beilby, John J; Blake, Tineka T; Boehnke, Michael M; Bottinger, Erwin P EP; Braund, Peter S PS; Brown, Morris M; Brumat, Marco M; Campbell, Harry H; Chambers, John C JC; Cocca, Massimiliano M; Collins, Francis F; Connell, John J; Cordell, Heather J HJ; Damman, Jeffrey J JJ; Davies, Gail G; de Geus, Eco J EJ; de Mutsert, Renée R; Deelen, Joris J; Demirkale, Yusuf Y; Doney, Alex S F ASF; Dörr, Marcus M; Farrall, Martin M; Ferreira, Teresa T; Frånberg, Mattias M; Gao, He H; Giedraitis, Vilmantas V; Gieger, Christian C; Giulianini, Franco F; Gow, Alan J AJ; Hamsten, Anders A; Harris, Tamara B TB; Hofman, Albert A; Holliday, Elizabeth G EG; Hui, Jennie J; Jarvelin, Marjo-Riitta MR; Johansson, Åsa Å; Johnson, Andrew D AD; Jousilahti, Pekka P; Jula, Antti A; Kähönen, Mika M; Kathiresan, Sekar S; Khaw, Kay-Tee KT; Kolcic, Ivana I; Koskinen, Seppo S; Langenberg, Claudia C; Larson, Marty M; Launer, Lenore J LJ; Lehne, Benjamin B; Liewald, David C M DCM; Lin, Li L; Lind, Lars L; Mach, François F; Mamasoula, Chrysovalanto C; Menni, Cristina C; Mifsud, Borbala B; Milaneschi, Yuri Y; Morgan, Anna A; Morris, Andrew D AD; Morrison, Alanna C AC; Munson, Peter J PJ; Nandakumar, Priyanka P; Nguyen, Quang Tri QT; Nutile, Teresa T; Oldehinkel, Albertine J AJ; Oostra, Ben A BA; Org, Elin E; Padmanabhan, Sandosh S; Palotie, Aarno A; Paré, Guillaume G; Pattie, Alison A; Penninx, Brenda W J H BWJH; Poulter, Neil N; Pramstaller, Peter P PP; Raitakari, Olli T OT; Ren, Meixia M; Rice, Kenneth K; Ridker, Paul M PM; Riese, Harriëtte H; Ripatti, Samuli S; Robino, Antonietta A; Rotter, Jerome I JI; Rudan, Igor I; Saba, Yasaman Y; Saint Pierre, Aude A; Sala, Cinzia F CF; Sarin, Antti-Pekka AP; Schmidt, Reinhold R; Scott, Rodney R; Seelen, Marc A MA; Shields, Denis C DC; Siscovick, David D; Sorice, Rossella R; Stanton, Alice A; Stott, David J DJ; Sundström, Johan J; Swertz, Morris M; Taylor, Kent D KD; Thom, Simon S; Tzoulaki, Ioanna I; Tzourio, Christophe C; Uitterlinden, André G AG; Völker, Uwe U; Vollenweider, Peter P; Wild, Sarah S; Willemsen, Gonneke G; Wright, Alan F AF; Yao, Jie J; Thériault, Sébastien S; Conen, David D; Attia, John J; Sever, Peter P; Debette, Stéphanie S; Mook-Kanamori, Dennis O DO; Zeggini, Eleftheria E; Spector, Tim D TD; van der Harst, Pim P; Palmer, Colin N A CNA; Vergnaud, Anne-Claire AC; Loos, Ruth J F RJF; Polasek, Ozren O; Starr, John M JM; Girotto, Giorgia G; Hayward, Caroline C; Kooner, Jaspal S JS; Lindgren, Cecila M CM; Vitart, Veronique V; Samani, Nilesh J NJ; Tuomilehto, Jaakko J; Gyllensten, Ulf U; Knekt, Paul P; Deary, Ian J IJ; Ciullo, Marina M; Elosua, Roberto R; Keavney, Bernard D BD; Hicks, Andrew A AA; Scott, Robert A RA; Gasparini, Paolo P; Laan, Maris M; Liu, YongMei Y; Watkins, Hugh H; Hartman, Catharina A CA; Salomaa, Veikko V; Toniolo, Daniela D; Perola, Markus M; Wilson, James F JF; Schmidt, Helena H; Zhao, Jing Hua JH; Lehtimäki, Terho T; van Duijn, Cornelia M CM; Gudnason, Vilmundur V; Psaty, Bruce M BM; Peters, Annette A; Rettig, Rainer R; James, Alan A; Jukema, J Wouter JW; Strachan, David P DP; Palmas, Walter W; Metspalu, Andres A; Ingelsson, Erik E; Boomsma, Dorret I DI; Franco, Oscar H OH; Bochud, Murielle M; Newton-Cheh, Christopher C; Munroe, Patricia B PB; Elliott, Paul P; Chasman, Daniel I DI; Chakravarti, Aravinda A; Knight, Joanne J; Morris, Andrew P AP; Levy, Daniel D; Tobin, Martin D MD; Snieder, Harold H; Caulfield, Mark J MJ; Ehret, Georg B GB
Publication Date: 2017-07-24

Variant appearance in text: rs10943605
PubMed Link: 28739976
Variant Present in the following documents:
  • Main text
View BVdb publication page



Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci.

Nature Genetics
Liu, Chunyu C; Kraja, Aldi T AT; Smith, Jennifer A JA; Brody, Jennifer A JA; Franceschini, Nora N; Bis, Joshua C JC; Rice, Kenneth K; Morrison, Alanna C AC; Lu, Yingchang Y; Weiss, Stefan S; Guo, Xiuqing X; Palmas, Walter W; Martin, Lisa W LW; Chen, Yii-Der Ida YD; Surendran, Praveen P; Drenos, Fotios F; Cook, James P JP; Auer, Paul L PL; Chu, Audrey Y AY; Giri, Ayush A; Zhao, Wei W; Jakobsdottir, Johanna J; Lin, Li-An LA; Stafford, Jeanette M JM; Amin, Najaf N; Mei, Hao H; Yao, Jie J; Voorman, Arend A; , ; , ; , ; , ; Larson, Martin G MG; Grove, Megan L ML; Smith, Albert V AV; Hwang, Shih-Jen SJ; Chen, Han H; Huan, Tianxiao T; Kosova, Gulum G; Stitziel, Nathan O NO; Kathiresan, Sekar S; Samani, Nilesh N; Schunkert, Heribert H; Deloukas, Panos P; , ; Li, Man M; Fuchsberger, Christian C; Pattaro, Cristian C; Gorski, Mathias M; , ; Kooperberg, Charles C; Papanicolaou, George J GJ; Rossouw, Jacques E JE; Faul, Jessica D JD; Kardia, Sharon L R SL; Bouchard, Claude C; Raffel, Leslie J LJ; Uitterlinden, André G AG; Franco, Oscar H OH; Vasan, Ramachandran S RS; O'Donnell, Christopher J CJ; Taylor, Kent D KD; Liu, Kiang K; Bottinger, Erwin P EP; Gottesman, Omri O; Daw, E Warwick EW; Giulianini, Franco F; Ganesh, Santhi S; Salfati, Elias E; Harris, Tamara B TB; Launer, Lenore J LJ; Dörr, Marcus M; Felix, Stephan B SB; Rettig, Rainer R; Völzke, Henry H; Kim, Eric E; Lee, Wen-Jane WJ; Lee, I-Te IT; Sheu, Wayne H-H WH; Tsosie, Krystal S KS; Edwards, Digna R Velez DR; Liu, Yongmei Y; Correa, Adolfo A; Weir, David R DR; Völker, Uwe U; Ridker, Paul M PM; Boerwinkle, Eric E; Gudnason, Vilmundur V; Reiner, Alexander P AP; van Duijn, Cornelia M CM; Borecki, Ingrid B IB; Edwards, Todd L TL; Chakravarti, Aravinda A; Rotter, Jerome I JI; Psaty, Bruce M BM; Loos, Ruth J F RJ; Fornage, Myriam M; Ehret, Georg B GB; Newton-Cheh, Christopher C; Levy, Daniel D; Chasman, Daniel I DI
Publication Date: 2016-10

Variant appearance in text: rs10943605
PubMed Link: 27618448
Variant Present in the following documents:
  • Main text
View BVdb publication page