Variant ID: 1-55518752-C-T

NM_174936.3(PCSK9):c.799+288C>T

This variant was identified in 12 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: rs7552841
PMID: 31509211
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Genetic markers of lipid metabolism genes associated with low susceptibility to HCV infection.

Scientific Reports
LM Real, J Macías, A Rivero-Juárez, F Téllez, D Merino, S Moreno-Grau, A Orellana, J Gómez-Salgado, ME Sáez, M Frías, A Corma-Gómez, N Merchante, A Ruiz, A Caruz, JA Pineda,
Publication Date: 2019-06-21

Variant appearance in text: rs7552841
PMID: 31227787
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Integrative Approach to Reveal Cell Type Specificity and Gene Candidates for Psoriatic Arthritis Outside the MHC.

Frontiers In Genetics
MT Patrick, PE Stuart, K Raja, S Chi, Z He, JJ Voorhees, T Tejasvi, JE Gudjonsson, JM Kahlenberg, V Chandran, P Rahman, DD Gladman, RP Nair, JT Elder, LC Tsoi
Publication Date: 2019

Variant appearance in text: rs7552841
PMID: 31031798
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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: rs7552841
PMID: 30645169
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Association between the DOCK7, PCSK9 and GALNT2 Gene Polymorphisms and Serum Lipid levels.

Scientific Reports
T Guo, RX Yin, F Huang, LM Yao, WX Lin, SL Pan
Publication Date: 2016-01-08

Variant appearance in text: rs7552841
PMID: 26744084
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Association of the variants and haplotypes in the DOCK7, PCSK9 and GALNT2 genes and the risk of hyperlipidaemia.

Journal Of Cellular And Molecular Medicine
T Guo, RX Yin, WX Lin, W Wang, F Huang, SL Pan
Publication Date: 2016-02

Variant appearance in text: rs7552841
PMID: 26493351
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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: rs7552841
PMID: 25266949
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SNP-SNP interactions dominate the genetic architecture of candidate genes associated with left ventricular mass in African-Americans of the GENOA study.

Bmc Medical Genetics
KJ Meyers, J Chu, TH Mosley, SL Kardia
Publication Date: 2010-11-10

Variant appearance in text: rs7552841
PMID: 21067599
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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: rs7552841
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: rs7552841
PMID: 18300938
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Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.799+288C>T - intron_variant - 5/11
ENST00000490692.1 n.1620+288C>T - intron_variant,non_coding_transcript_variant - 2/7
ENST00000543384.1 c.199+288C>T - intron_variant - 3/9
NM_174936.4 c.799+288C>T - intron_variant - 5/11
NR_110451.1 n.458+288C>T - intron_variant,non_coding_transcript_variant - 3/9