CETP c.1147-195A>C

Variant ID: 16-57014875-A-C

NM_000078.2(CETP):c.1147-195A>C

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: rs4784745
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Cholesteryl ester transfer protein (CETP) as a drug target for cardiovascular disease.

Nature Communications
Schmidt, Amand F AF; Hunt, Nicholas B NB; Gordillo-Marañón, Maria M; Charoen, Pimphen P; Drenos, Fotios F; Kivimaki, Mika M; Lawlor, Deborah A DA; Giambartolomei, Claudia C; Papacosta, Olia O; Chaturvedi, Nishi N; Bis, Joshua C JC; O'Donnell, Christopher J CJ; Wannamethee, Goya G; Wong, Andrew A; Price, Jackie F JF; Hughes, Alun D AD; Gaunt, Tom R TR; Franceschini, Nora N; Mook-Kanamori, Dennis O DO; Zwierzyna, Magdalena M; Sofat, Reecha R; Hingorani, Aroon D AD; Finan, Chris C
Publication Date: 2021-09-24

Variant appearance in text: rs4784745
PubMed Link: 34561430
Variant Present in the following documents:
  • 41467_2021_25703_MOESM1_ESM.pdf
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: rs4784745
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



A Mendelian randomization study of the effects of blood lipids on breast cancer risk.

Nature Communications
Nowak, Christoph C; Ärnlöv, Johan J
Publication Date: 2018-09-27

Variant appearance in text: rs4784745
PubMed Link: 30262900
Variant Present in the following documents:
  • 41467_2018_6467_MOESM1_ESM.pdf
View BVdb publication page



Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs4784745
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Fine mapping the CETP region reveals a common intronic insertion associated to HDL-C.

Npj Aging And Mechanisms Of Disease
van Leeuwen, Elisabeth M EM; Huffman, Jennifer E JE; Bis, Joshua C JC; Isaacs, Aaron A; Mulder, Monique M; Sabo, Aniko A; Smith, Albert V AV; Demissie, Serkalem S; Manichaikul, Ani A; Brody, Jennifer A JA; Feitosa, Mary F MF; Duan, Qing Q; Schraut, Katharina E KE; Navarro, Pau P; van Vliet-Ostaptchouk, Jana V JV; Zhu, Gu G; Mbarek, Hamdi H; Trompet, Stella S; Verweij, Niek N; Lyytikäinen, Leo-Pekka LP; Deelen, Joris J; Nolte, Ilja M IM; van der Laan, Sander W SW; Davies, Gail G; Vermeij-Verdoold, Andrea Jm AJ; van Oosterhout, Andy Alj AA; Vergeer-Drop, Jeannette M JM; Arking, Dan E DE; Trochet, Holly H; , ; Medina-Gomez, Carolina C; Rivadeneira, Fernando F; Uitterlinden, Andre G AG; Dehghan, Abbas A; Franco, Oscar H OH; Sijbrands, Eric J EJ; Hofman, Albert A; White, Charles C CC; Mychaleckyj, Josyf C JC; Peloso, Gina M GM; Swertz, Morris A MA; , ; Willemsen, Gonneke G; de Geus, Eco J EJ; Milaneschi, Yuri Y; Penninx, Brenda Wjh BW; Ford, Ian I; Buckley, Brendan M BM; de Craen, Anton Jm AJ; Starr, John M JM; Deary, Ian J IJ; Pasterkamp, Gerard G; Oldehinkel, Albertine J AJ; Snieder, Harold H; Slagboom, P Eline PE; Nikus, Kjell K; Kähönen, Mika M; Lehtimäki, Terho T; Viikari, Jorma S JS; Raitakari, Olli T OT; van der Harst, Pim P; Jukema, J Wouter JW; Hottenga, Jouke-Jan JJ; Boomsma, Dorret I DI; Whitfield, John B JB; Montgomery, Grant G; Martin, Nicholas G NG; , ; Polasek, Ozren O; Vitart, Veronique V; Hayward, Caroline C; Kolcic, Ivana I; Wright, Alan F AF; Rudan, Igor I; Joshi, Peter K PK; Wilson, James F JF; Lange, Leslie A LA; Wilson, James G JG; Gudnason, Vilmundur V; Harris, Tamar B TB; Morrison, Alanna C AC; Borecki, Ingrid B IB; Rich, Stephen S SS; Padmanabhan, Sandosh S; Psaty, Bruce M BM; Rotter, Jerome I JI; Smith, Blair H BH; Boerwinkle, Eric E; Cupples, L Adrienne LA; van Duijn, Cornelia C
Publication Date: 2015

Variant appearance in text: rs4784745
PubMed Link: 28721259
Variant Present in the following documents:
  • Main text
  • npjamd201511.pdf
View BVdb publication page