Variant ID: 1-55528629-G-A

NM_174936.3(PCSK9):c.1864-413G>A

This variant was identified in 7 publications




Publications:


Association Between Genetically Proxied Inhibition of HMG-CoA Reductase and Epithelial Ovarian Cancer.

Jama
J Yarmolinsky, CJ Bull, EE Vincent, J Robinson, A Walther, GD Smith, SJ Lewis, CL Relton, RM Martin
Publication Date: 2020-02-18

Variant appearance in text: rs12067569
PMID: 32068819
View BVdb publication page



Genetic risk score predicts risk for overweight and obesity in Finnish preadolescents.

Clinical Obesity
H Viljakainen, E Dahlström, R Figueiredo, N Sandholm, TB Rounge, E Weiderpass
Publication Date: 2019-12

Variant appearance in text: rs12067569
PMID: 31595703
View BVdb publication page



Mendelian Randomization Implicates High-Density Lipoprotein Cholesterol-Associated Mechanisms in Etiology of Age-Related Macular Degeneration.

Ophthalmology
S Burgess, G Davey Smith
Publication Date: 2017-08

Variant appearance in text: rs12067569
PMID: 28456421
View BVdb publication page



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: rs12067569
PMID: 26493351
View BVdb publication page



Both rare and common variants in PCSK9 influence plasma low-density lipoprotein cholesterol level in American Indians.

The Journal Of Clinical Endocrinology And Metabolism
CW Tsai, KE North, A Tin, K Haack, N Franceschini, V Saroja Voruganti, S Laston, Y Zhang, LG Best, JW MacCluer, TH Beaty, A Navas-Acien, WH Kao, BV Howard
Publication Date: 2015-02

Variant appearance in text: rs12067569
PMID: 25412415
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: rs12067569
PMID: 18300938
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1864-413G>A - intron_variant - 11/11
ENST00000490692.1 n.2410-413G>A - intron_variant,non_coding_transcript_variant - 7/7
ENST00000543384.1 c.*411-413G>A - intron_variant - 9/9
NM_174936.4 c.1864-413G>A - intron_variant - 11/11
NR_110451.1 n.1471-413G>A - intron_variant,non_coding_transcript_variant - 9/9