LDLR c.*1453A>G

Variant ID: 19-11243445-A-G

NM_000527.4(LDLR):c.*1453A>G

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Association Between Genetically Proxied Lipid-Lowering Drug Targets and Renal Cell Carcinoma: A Mendelian Randomization Study.

Frontiers In Nutrition
Liu, Luyang L; Sheng, Chao C; Lyu, Zhangyan Z; Dai, Hongji H; Chen, Kexin K
Publication Date: 2021

Variant appearance in text: rs5742911
PubMed Link: 34712689
Variant Present in the following documents:
  • Main text
  • fnut-08-755834.pdf
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: rs5742911
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR.

Npj Genomic Medicine
Safarova, Maya S MS; Satterfield, Benjamin A BA; Fan, Xiao X; Austin, Erin E EE; Ye, Zhan Z; Bastarache, Lisa L; Zheng, Neil N; Ritchie, Marylyn D MD; Borthwick, Kenneth M KM; Williams, Marc S MS; Larson, Eric B EB; Scrol, Aaron A; Jarvik, Gail P GP; Crosslin, David R DR; Leppig, Kathleen K; Rasmussen-Torvik, Laura J LJ; Pendergrass, Sarah A SA; Sturm, Amy C AC; Namjou, Bahram B; Shah, Amy Sanghavi AS; Carroll, Robert J RJ; Chung, Wendy K WK; Wei, Wei-Qi WQ; Feng, QiPing Q; Stein, C Michael CM; Roden, Dan M DM; Manolio, Teri A TA; Schaid, Daniel J DJ; Denny, Joshua C JC; Hebbring, Scott J SJ; de Andrade, Mariza M; Kullo, Iftikhar J IJ
Publication Date: 2019

Variant appearance in text: rs5742911
PubMed Link: 30774981
Variant Present in the following documents:
  • Main text
  • 41525_2019_Article_78.pdf
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: rs5742911
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: rs5742911
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: rs5742911
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Association of CVD candidate gene polymorphisms with ischemic stroke and cerebral hemorrhage in Chinese individuals.

Plos One
Ou, Wenjing W; Liu, Xin X; Shen, Yue Y; Li, Jiana J; He, Lingbin L; Yuan, Yuan Y; Tan, Xuerui X; Liu, Lisheng L; Zhao, Jingbo J; Wang, Xingyu X
Publication Date: 2014

Variant appearance in text: rs5742911
PubMed Link: 25144711
Variant Present in the following documents:
  • Main text
  • pone.0105516.pdf
View BVdb publication page



Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio
Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M
Publication Date: 2014

Variant appearance in text: rs5742911
PubMed Link: 24490137
Variant Present in the following documents:
  • mmc5.xlsx, sheet 2
View BVdb publication page



Epistatic study reveals two genetic interactions in blood pressure regulation.

Bmc Medical Genetics
Ndiaye, Ndeye Coumba NC; Said, El Shamieh el S; Stathopoulou, Maria G MG; Siest, Gérard G; Tsai, Michael Y MY; Visvikis-Siest, Sophie S
Publication Date: 2013-01-08

Variant appearance in text: rs5742911
PubMed Link: 23298194
Variant Present in the following documents:
  • Main text
  • 1471-2350-14-2.pdf
View BVdb publication page



Linkage and association of phospholipid transfer protein activity to LASS4.

Journal Of Lipid Research
Rosenthal, Elisabeth A EA; Ronald, James J; Rothstein, Joseph J; Rajagopalan, Ramakrishnan R; Ranchalis, Jane J; Wolfbauer, G G; Albers, John J JJ; Brunzell, John D JD; Motulsky, Arno G AG; Rieder, Mark J MJ; Nickerson, Deborah A DA; Wijsman, Ellen M EM; Jarvik, Gail P GP
Publication Date: 2011-10

Variant appearance in text: rs5742911
PubMed Link: 21757428
Variant Present in the following documents:
  • Main text
View BVdb publication page



Combined influence of LDLR and HMGCR sequence variation on lipid-lowering response to simvastatin.

Arteriosclerosis, Thrombosis, And Vascular Biology
Mangravite, Lara M LM; Medina, Marisa Wong MW; Cui, Jinrui J; Pressman, Sheila S; Smith, Joshua D JD; Rieder, Mark J MJ; Guo, Xiuqing X; Nickerson, Deborah A DA; Rotter, Jerome I JI; Krauss, Ronald M RM
Publication Date: 2010-07

Variant appearance in text: rs5742911
PubMed Link: 20413733
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sickle Cell Disease in the Post Genomic Era: A Monogenic Disease with a Polygenic Phenotype.

Genomics Insights
Driss, A A; Asare, K O KO; Hibbert, J M JM; Gee, B E BE; Adamkiewicz, T V TV; Stiles, J K JK
Publication Date: 2009-07-30

Variant appearance in text: rs5742911
PubMed Link: 20401335
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.

Clinica Chimica Acta; International Journal Of Clinical Chemistry
Zee, Robert Y L RY; Bubes, Vadim V; Shrivastava, Sanjay S; Ridker, Paul M PM; Glynn, Robert J RJ
Publication Date: 2009-04

Variant appearance in text: rs5742911
PubMed Link: 19263529
Variant Present in the following documents:
  • Main text
View BVdb publication page



A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.

Stroke
Wang, Xingyu X; Cheng, Suzanne S; Brophy, Victoria H VH; Erlich, Henry A HA; Mannhalter, Christine C; Berger, Klaus K; Lalouschek, Wolfgang W; Browner, Warren S WS; Shi, Yu Y; Ringelstein, E Bernd EB; Kessler, Christof C; Luedemann, Jan J; Lindpaintner, Klaus K; Liu, Lisheng L; Ridker, Paul M PM; Zee, Robert Y L RY; Cook, Nancy R NR; ,
Publication Date: 2009-03

Variant appearance in text: rs5742911
PubMed Link: 19131662
Variant Present in the following documents:
  • Main text
View BVdb publication page



New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.

Bmc Bioinformatics
Penco, Silvana S; Buscema, Massimo M; Patrosso, Maria Cristina MC; Marocchi, Alessandro A; Grossi, Enzo E
Publication Date: 2008-05-30

Variant appearance in text: rs5742911
PubMed Link: 18513389
Variant Present in the following documents:
  • Main text
  • 1471-2105-9-254.pdf
View BVdb publication page