Variant ID: 1-55513061-T-C

NM_174936.3(PCSK9):c.523+742T>C

This variant was identified in 6 publications




Publications:


A Genetic Approach to the Association Between PCSK9 and Sepsis.

Jama Network Open
Q Feng, WQ Wei, S Chaugai, BG Carranza Leon, V Kawai, DA Carranza Leon, L Jiang, X Zhong, G Liu, A Ihegword, CM Shaffer, MF Linton, CP Chung, CM Stein
Publication Date: 2019-09-04

Variant appearance in text: rs10888897
PMID: 31509211
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Variation in Serum PCSK9 (Proprotein Convertase Subtilisin/Kexin Type 9), Cardiovascular Disease Risk, and an Investigation of Potential Unanticipated Effects of PCSK9 Inhibition.

Circulation. Genomic And Precision Medicine
BM Brumpton, LG Fritsche, J Zheng, JB Nielsen, M Mannila, I Surakka, H Rasheed, GÅ Vie, SE Graham, ME Gabrielsen, LE Laugsand, P Aukrust, LJ Vatten, JK Damås, T Ueland, I Janszky, JA Zwart, FM Van't Hooft, NG Seidah, K Hveem, C Willer, GD Smith, BO Åsvold,
Publication Date: 2019-01

Variant appearance in text: rs10888897
PMID: 30645169
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: rs10888897
PMID: 23300213
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Effects of PCSK9 genetic variants on plasma LDL cholesterol levels and risk of premature myocardial infarction in the Italian population.

Journal Of Lipid Research
I Guella, R Asselta, D Ardissino, PA Merlini, F Peyvandi, S Kathiresan, PM Mannucci, M Tubaro, S Duga
Publication Date: 2010-11

Variant appearance in text: rs10888897
PMID: 20699424
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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: rs10888897
PMID: 18300938
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.523+742T>C - intron_variant - 3/11
ENST00000452118.2 c.523+742T>C - intron_variant - 3/5
ENST00000543384.1 c.-77-4890T>C - intron_variant - 1/9
NM_174936.4 c.523+742T>C - intron_variant - 3/11
NR_110451.1 n.183-4890T>C - intron_variant,non_coding_transcript_variant - 1/9