CETP c.751-414T>A

Variant ID: 16-57006829-T-A

NM_000078.2(CETP):c.751-414T>A

This variant was identified in 7 publications

View GRCh38 version.




Publications:


GWAS and ExWAS of blood mitochondrial DNA copy number identifies 71 loci and highlights a potential causal role in dementia.

Elife
Chong, Michael M; Mohammadi-Shemirani, Pedrum P; Perrot, Nicolas N; Nelson, Walter W; Morton, Robert R; Narula, Sukrit S; Lali, Ricky R; Khan, Irfan I; Khan, Mohammad M; Judge, Conor C; Machipisa, Tafadzwa T; Cawte, Nathan N; O'Donnell, Martin M; Pigeyre, Marie M; Akhabir, Loubna L; Paré, Guillaume G
Publication Date: 2022-01-13

Variant appearance in text: rs289713
PubMed Link: 35023831
Variant Present in the following documents:
  • elife-70382-supp2.xlsx, sheet 5
  • elife-70382-supp2.xlsx, sheet 1
View BVdb publication page



Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation.

Human Genetics
Longchamps, R J RJ; Yang, S Y SY; Castellani, C A CA; Shi, W W; Lane, J J; Grove, M L ML; Bartz, T M TM; Sarnowski, C C; Liu, C C; Burrows, K K; Guyatt, A L AL; Gaunt, T R TR; Kacprowski, T T; Yang, J J; De Jager, P L PL; Yu, L L; Bergman, A A; Xia, R R; Fornage, M M; Feitosa, M F MF; Wojczynski, M K MK; Kraja, A T AT; Province, M A MA; Amin, N N; Rivadeneira, F F; Tiemeier, H H; Uitterlinden, A G AG; Broer, L L; Van Meurs, J B J JBJ; Van Duijn, C M CM; Raffield, L M LM; Lange, L L; Rich, S S SS; Lemaitre, R N RN; Goodarzi, M O MO; Sitlani, C M CM; Mak, A C Y ACY; Bennett, D A DA; Rodriguez, S S; Murabito, J M JM; Lunetta, K L KL; Sotoodehnia, N N; Atzmon, G G; Ye, K K; Barzilai, N N; Brody, J A JA; Psaty, B M BM; Taylor, K D KD; Rotter, J I JI; Boerwinkle, E E; Pankratz, N N; Arking, D E DE
Publication Date: 2022-01

Variant appearance in text: rs289713
PubMed Link: 34859289
Variant Present in the following documents:
  • 439_2021_2394_MOESM3_ESM.xlsx, sheet 4
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: rs289713
PubMed Link: 33339817
Variant Present in the following documents:
  • 41467_2020_20086_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Genome-wide landscape establishes novel association signals for metabolic traits in the Arab population.

Human Genetics
Hebbar, Prashantha P; Abubaker, Jehad Ahmed JA; Abu-Farha, Mohamed M; Alsmadi, Osama O; Elkum, Naser N; Alkayal, Fadi F; John, Sumi Elsa SE; Channanath, Arshad A; Iqbal, Rasheeba R; Pitkaniemi, Janne J; Tuomilehto, Jaakko J; Sladek, Robert R; Al-Mulla, Fahd F; Thanaraj, Thangavel Alphonse TA
Publication Date: 2021-03

Variant appearance in text: rs289713
PubMed Link: 32902719
Variant Present in the following documents:
  • Main text
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: rs289713
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Abnormal Complement Activation and Inflammation in the Pathogenesis of Retinopathy of Prematurity.

Frontiers In Immunology
Rathi, Sonika S; Jalali, Subhadra S; Patnaik, Satish S; Shahulhameed, Shahna S; Musada, Ganeswara R GR; Balakrishnan, Divya D; Rani, Padmaja K PK; Kekunnaya, Ramesh R; Chhablani, Preeti Patil PP; Swain, Sarpras S; Giri, Lopamudra L; Chakrabarti, Subhabrata S; Kaur, Inderjeet I
Publication Date: 2017

Variant appearance in text: rs289713
PubMed Link: 29312345
Variant Present in the following documents:
  • Main text
  • fimmu-08-01868.pdf
View BVdb publication page



Assessment of established HDL-C loci for association with HDL-C levels and type 2 diabetes in Pima Indians.

Diabetologia
Nair, Anup K AK; Piaggi, Paolo P; McLean, Nellie A NA; Kaur, Manmeet M; Kobes, Sayuko S; Knowler, William C WC; Bogardus, Clifton C; Hanson, Robert L RL; Baier, Leslie J LJ
Publication Date: 2016-03

Variant appearance in text: rs289713
PubMed Link: 26670163
Variant Present in the following documents:
  • Main text
View BVdb publication page