HMGCR c.2457+70C>T

Variant ID: 5-74655451-C-T

NM_000859.2(HMGCR):c.2457+70C>T

This variant was identified in 9 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: rs2303151
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Effect of NPC1L1 and HMGCR Genetic Variants With Premature Triple-Vessel Coronary Disease.

Frontiers In Cardiovascular Medicine
Zhao, Xueyan X; Xu, Jingjing J; Tang, Xiaofang X; Huang, Keyong K; Li, Jiawen J; Liu, Ru R; Jiang, Lin L; Zhang, Yin Y; Wang, Dong D; Sun, Kai K; Xu, Bo B; Zhao, Wei W; Hui, Rutai R; Gao, Runlin R; Song, Lei L; Yuan, Jinqing J
Publication Date: 2021

Variant appearance in text: rs2303151
PubMed Link: 34926596
Variant Present in the following documents:
  • Main text
  • fcvm-08-704501.pdf
View BVdb publication page



Genetic drug target validation using Mendelian randomisation.

Nature Communications
Schmidt, Amand F AF; Finan, Chris C; Gordillo-Marañón, Maria M; Asselbergs, Folkert W FW; Freitag, Daniel F DF; Patel, Riyaz S RS; Tyl, Benoît B; Chopade, Sandesh S; Faraway, Rupert R; Zwierzyna, Magdalena M; Hingorani, Aroon D AD
Publication Date: 2020-06-26

Variant appearance in text: rs2303151
PubMed Link: 32591531
Variant Present in the following documents:
  • 41467_2020_16969_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: HMGCR: 2457+70C>T; rs2303151
PubMed Link: 30319441
Variant Present in the following documents:
  • 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: rs2303151
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: rs2303151
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer
Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F
Publication Date: 2017-05-12

Variant appearance in text: rs2303151
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Pharmacogenetic meta-analysis of genome-wide association studies of LDL cholesterol response to statins.

Nature Communications
Postmus, Iris I; Trompet, Stella S; Deshmukh, Harshal A HA; Barnes, Michael R MR; Li, Xiaohui X; Warren, Helen R HR; Chasman, Daniel I DI; Zhou, Kaixin K; Arsenault, Benoit J BJ; Donnelly, Louise A LA; Wiggins, Kerri L KL; Avery, Christy L CL; Griffin, Paula P; Feng, QiPing Q; Taylor, Kent D KD; Li, Guo G; Evans, Daniel S DS; Smith, Albert V AV; de Keyser, Catherine E CE; Johnson, Andrew D AD; de Craen, Anton J M AJ; Stott, David J DJ; Buckley, Brendan M BM; Ford, Ian I; Westendorp, Rudi G J RG; Slagboom, P Eline PE; Sattar, Naveed N; Munroe, Patricia B PB; Sever, Peter P; Poulter, Neil N; Stanton, Alice A; Shields, Denis C DC; O'Brien, Eoin E; Shaw-Hawkins, Sue S; Chen, Y-D Ida YD; Nickerson, Deborah A DA; Smith, Joshua D JD; Dubé, Marie Pierre MP; Boekholdt, S Matthijs SM; Hovingh, G Kees GK; Kastelein, John J P JJ; McKeigue, Paul M PM; Betteridge, John J; Neil, Andrew A; Durrington, Paul N PN; Doney, Alex A; Carr, Fiona F; Morris, Andrew A; McCarthy, Mark I MI; Groop, Leif L; Ahlqvist, Emma E; , ; Bis, Joshua C JC; Rice, Kenneth K; Smith, Nicholas L NL; Lumley, Thomas T; Whitsel, Eric A EA; Stürmer, Til T; Boerwinkle, Eric E; Ngwa, Julius S JS; O'Donnell, Christopher J CJ; Vasan, Ramachandran S RS; Wei, Wei-Qi WQ; Wilke, Russell A RA; Liu, Ching-Ti CT; Sun, Fangui F; Guo, Xiuqing X; Heckbert, Susan R SR; Post, Wendy W; Sotoodehnia, Nona N; Arnold, Alice M AM; Stafford, Jeanette M JM; Ding, Jingzhong J; Herrington, David M DM; Kritchevsky, Stephen B SB; Eiriksdottir, Gudny G; Launer, Leonore J LJ; Harris, Tamara B TB; Chu, Audrey Y AY; Giulianini, Franco F; MacFadyen, Jean G JG; Barratt, Bryan J BJ; Nyberg, Fredrik F; Stricker, Bruno H BH; Uitterlinden, André G AG; Hofman, Albert A; Rivadeneira, Fernando F; Emilsson, Valur V; Franco, Oscar H OH; Ridker, Paul M PM; Gudnason, Vilmundur V; Liu, Yongmei Y; Denny, Joshua C JC; Ballantyne, Christie M CM; Rotter, Jerome I JI; Adrienne Cupples, L L; Psaty, Bruce M BM; Palmer, Colin N A CN; Tardif, Jean-Claude JC; Colhoun, Helen M HM; Hitman, Graham G; Krauss, Ronald M RM; Wouter Jukema, J J; Caulfield, Mark J MJ
Publication Date: 2014-10-28

Variant appearance in text: rs2303151
PubMed Link: 25350695
Variant Present in the following documents:
  • ncomms6068-s1.pdf
View BVdb publication page



TagSNP transferability and relative loss of variability prediction from HapMap to an admixed population.

Journal Of Biomedical Science
Lins, Tulio C TC; Abreu, Breno S BS; Pereira, Rinaldo W RW
Publication Date: 2009-08-14

Variant appearance in text: rs2303151
PubMed Link: 19682379
Variant Present in the following documents:
  • Main text
  • 1423-0127-16-73.pdf
View BVdb publication page