Variant ID: 1-55512549-T-A

NM_174936.3(PCSK9):c.523+230T>A

This variant was identified in 9 publications




Publications:


Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in the Brain and Relevance for Neuropsychiatric Disorders.

Frontiers In Neuroscience
EM O'Connell, FW Lohoff
Publication Date: 2020

Variant appearance in text: rs499718
PubMed Link: 32595449
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lipid lowering and Alzheimer disease risk: A mendelian randomization study.

Annals Of Neurology
DM Williams, C Finan, AF Schmidt, S Burgess, AD Hingorani
Publication Date: 2020-01

Variant appearance in text: rs499718
PubMed Link: 31714636
Variant Present in the following documents:
  • ANA-87-30-s001.docx
View BVdb publication page



Proprotein convertase subtilisin/kexin type 9 (PCSK9) in Alzheimer's disease: A genetic and proteomic multi-cohort study.

Plos One
C Picard, A Poirier, S Bélanger, A Labonté, D Auld, J Poirier,
Publication Date: 2019

Variant appearance in text: rs499718
PubMed Link: 31437157
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-Wide Scan Informed by Age-Related Disease Identifies Loci for Exceptional Human Longevity.

Plos Genetics
K Fortney, E Dobriban, P Garagnani, C Pirazzini, D Monti, D Mari, G Atzmon, N Barzilai, C Franceschi, AB Owen, SK Kim
Publication Date: 2015-12

Variant appearance in text: rs499718
PubMed Link: 26677855
Variant Present in the following documents:
  • pgen.1005728.s006.xlsx
View BVdb publication page



Correlation of PCSK9 gene polymorphism with cerebral ischemic stroke in Xinjiang Han and Uygur populations.

Medical Science Monitor : International Medical Journal Of Experimental And Clinical Research
D Han, J Ma, X Zhang, J Cai, J Li, T Tuerxun, C Hao, L Du, J Lei
Publication Date: 2014-09-30

Variant appearance in text: rs499718
PubMed Link: 25266949
Variant Present in the following documents:
  • Main text
View BVdb publication page



Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis.

Nature Genetics
JZ Liu, JR Hov, T Folseraas, E Ellinghaus, SM Rushbrook, NT Doncheva, OA Andreassen, RK Weersma, TJ Weismüller, B Eksteen, P Invernizzi, GM Hirschfield, DN Gotthardt, A Pares, D Ellinghaus, T Shah, BD Juran, P Milkiewicz, C Rust, C Schramm, T Müller, B Srivastava, G Dalekos, MM Nöthen, S Herms, J Winkelmann, M Mitrovic, F Braun, CY Ponsioen, PJ Croucher, M Sterneck, A Teufel, AL Mason, J Saarela, V Leppa, R Dorfman, D Alvaro, A Floreani, S Onengut-Gumuscu, SS Rich, WK Thompson, AJ Schork, S Næss, I Thomsen, G Mayr, IR König, K Hveem, I Cleynen, J Gutierrez-Achury, I Ricaño-Ponce, D van Heel, E Björnsson, RN Sandford, PR Durie, E Melum, MH Vatn, MS Silverberg, RH Duerr, L Padyukov, S Brand, M Sans, V Annese, JP Achkar, KM Boberg, HU Marschall, O Chazouillères, CL Bowlus, C Wijmenga, E Schrumpf, S Vermeire, M Albrecht, , JD Rioux, G Alexander, A Bergquist, J Cho, S Schreiber, MP Manns, M Färkkilä, AM Dale, RW Chapman, KN Lazaridis, , A Franke, CA Anderson, TH Karlsen,
Publication Date: 2013-06

Variant appearance in text: rs499718
PubMed Link: 23603763
Variant Present in the following documents:
  • NIHMS53127-supplement-6.xlsx
View BVdb publication page



PCSK9 SNP rs11591147 is associated with low cholesterol levels but not with cognitive performance or noncardiovascular clinical events in an elderly population.

Journal Of Lipid Research
I Postmus, S Trompet, AJ de Craen, BM Buckley, I Ford, DJ Stott, N Sattar, PE Slagboom, RG Westendorp, JW Jukema
Publication Date: 2013-02

Variant appearance in text: rs499718
PubMed Link: 23300213
Variant Present in the following documents:
  • Main text
View BVdb publication page



Complexity in the genetic architecture of leukoaraiosis in hypertensive sibships from the GENOA Study.

Bmc Medical Genomics
JA Smith, ST Turner, YV Sun, M Fornage, RJ Kelly, TH Mosley, CR Jack, IJ Kullo, SL Kardia
Publication Date: 2009-04-07

Variant appearance in text: rs499718
PubMed Link: 19351393
Variant Present in the following documents:
  • 1755-8794-2-16-S1.xls
View BVdb publication page



Molecular population genetics of PCSK9: a signature of recent positive selection.

Pharmacogenetics And Genomics
K Ding, IJ Kullo
Publication Date: 2008-03

Variant appearance in text: rs499718
PubMed Link: 18300938
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.523+230T>A - intron_variant - 3/11
ENST00000452118.2 c.523+230T>A - intron_variant - 3/5
ENST00000543384.1 c.-77-5402T>A - intron_variant - 1/9
NM_174936.4 c.523+230T>A - intron_variant - 3/11
NR_110451.1 n.183-5402T>A - intron_variant,non_coding_transcript_variant - 1/9