LDLR c.2312-211A>G

Variant ID: 19-11238473-A-G

NM_000527.4(LDLR):c.2312-211A>G

This variant was identified in 12 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: rs2738459
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



The R93C Variant of PCSK9 Reduces the Risk of Premature MI in a Chinese Han Population.

Frontiers In Genetics
Yang, Lincheng L; Pu, Tian T; Zhang, Yan Y; Yan, Hua H; Yu, Haiyi H; Gao, Wei W
Publication Date: 2022

Variant appearance in text: rs2738459
PubMed Link: 35480303
Variant Present in the following documents:
  • Main text
  • fgene-13-875269.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: rs2738459
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
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: rs2738459
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs2738459
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Genetic, metabolic and environmental factors involved in the development of liver cirrhosis in Mexico.

World Journal Of Gastroenterology
Ramos-Lopez, Omar O; Martinez-Lopez, Erika E; Roman, Sonia S; Fierro, Nora A NA; Panduro, Arturo A
Publication Date: 2015-11-07

Variant appearance in text: rs2738459
PubMed Link: 26556986
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multivariable Mendelian randomization: the use of pleiotropic genetic variants to estimate causal effects.

American Journal Of Epidemiology
Burgess, Stephen S; Thompson, Simon G SG
Publication Date: 2015-02-15

Variant appearance in text: rs2738459
PubMed Link: 25632051
Variant Present in the following documents:
  • supp_kwu283_kwu283supp.pdf
View BVdb publication page



Identification of genes contributing to cardiovascular disease in overweight and obese individuals from West Virginia.

The West Virginia Medical Journal
Dementieva, Yulia Y; Green, Todd L TL; Primerano, Donald A DA; Wei, Liping L; Denvir, James J; Wehner, Paulette P; Dodson, Sarah S; Flood, Mark R MR; Pollock, Bonnie A BA; Huff, Melinda M; Hill, Contessa C; Kreisberg, Robert R; Francis, Amanda A; Morrison, Katie K; Blackwood, Holly H; Davis, Mary M; Lee, Huey Miin HM; Warren, Stafford S; ,
Publication Date: 2012

Variant appearance in text: rs2738459
PubMed Link: 25134189
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification and validation of genetic variants that influence transcription factor and cell signaling protein levels.

American Journal Of Human Genetics
Hause, Ronald J RJ; Stark, Amy L AL; Antao, Nirav N NN; Gorsic, Lidija K LK; Chung, Sophie H SH; Brown, Christopher D CD; Wong, Shan S SS; Gill, Daniel F DF; Myers, Jamie L JL; To, Lida Anita LA; White, Kevin P KP; Dolan, M Eileen ME; Jones, Richard Baker RB
Publication Date: 2014-08-07

Variant appearance in text: rs2738459
PubMed Link: 25087611
Variant Present in the following documents:
  • Main text
  • mmc13.pdf
  • main.pdf
View BVdb publication page



Meta-analysis of gene-level tests for rare variant association.

Nature Genetics
Liu, Dajiang J DJ; Peloso, Gina M GM; Zhan, Xiaowei X; Holmen, Oddgeir L OL; Zawistowski, Matthew M; Feng, Shuang S; Nikpay, Majid M; Auer, Paul L PL; Goel, Anuj A; Zhang, He H; Peters, Ulrike U; Farrall, Martin M; Orho-Melander, Marju M; Kooperberg, Charles C; McPherson, Ruth R; Watkins, Hugh H; Willer, Cristen J CJ; Hveem, Kristian K; Melander, Olle O; Kathiresan, Sekar S; Abecasis, Gonçalo R GR
Publication Date: 2014-02

Variant appearance in text: rs2738459
PubMed Link: 24336170
Variant Present in the following documents:
  • NIHMS543085-supplement-1.pdf
View BVdb publication page



Low-density lipoprotein cholesterol, apolipoprotein B, and risk of coronary heart disease: from familial hyperlipidemia to genomics.

Biological Research For Nursing
Imes, Christopher C CC; Austin, Melissa A MA
Publication Date: 2013-07

Variant appearance in text: rs2738459
PubMed Link: 22531366
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variants influencing circulating lipid levels and risk of coronary artery disease.

Arteriosclerosis, Thrombosis, And Vascular Biology
Waterworth, Dawn M DM; Ricketts, Sally L SL; Song, Kijoung K; Chen, Li L; Zhao, Jing Hua JH; Ripatti, Samuli S; Aulchenko, Yurii S YS; Zhang, Weihua W; Yuan, Xin X; Lim, Noha N; Luan, Jian'an J; Ashford, Sofie S; Wheeler, Eleanor E; Young, Elizabeth H EH; Hadley, David D; Thompson, John R JR; Braund, Peter S PS; Johnson, Toby T; Struchalin, Maksim M; Surakka, Ida I; Luben, Robert R; Khaw, Kay-Tee KT; Rodwell, Sheila A SA; Loos, Ruth J F RJ; Boekholdt, S Matthijs SM; Inouye, Michael M; Deloukas, Panagiotis P; Elliott, Paul P; Schlessinger, David D; Sanna, Serena S; Scuteri, Angelo A; Jackson, Anne A; Mohlke, Karen L KL; Tuomilehto, Jaako J; Roberts, Robert R; Stewart, Alexandre A; Kesäniemi, Y Antero YA; Mahley, Robert W RW; Grundy, Scott M SM; , ; McArdle, Wendy W; Cardon, Lon L; Waeber, Gérard G; Vollenweider, Peter P; Chambers, John C JC; Boehnke, Michael M; Abecasis, Gonçalo R GR; Salomaa, Veikko V; Järvelin, Marjo-Riitta MR; Ruokonen, Aimo A; Barroso, Inês I; Epstein, Stephen E SE; Hakonarson, Hakon H HH; Rader, Daniel J DJ; Reilly, Muredach P MP; Witteman, Jacqueline C M JC; Hall, Alistair S AS; Samani, Nilesh J NJ; Strachan, David P DP; Barter, Philip P; van Duijn, Cornelia M CM; Kooner, Jaspal S JS; Peltonen, Leena L; Wareham, Nicholas J NJ; McPherson, Ruth R; Mooser, Vincent V; Sandhu, Manjinder S MS
Publication Date: 2010-11

Variant appearance in text: rs2738459
PubMed Link: 20864672
Variant Present in the following documents:
  • Main text
View BVdb publication page