Variant ID: 1-55518166-G-A

NM_174936.3(PCSK9):c.657+82G>A

This variant was identified in 4 publications




Publications:


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: rs625619
PubMed Link: 31714636
Variant Present in the following documents:
  • ANA-87-30-s001.docx
View BVdb publication page



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: rs625619
PubMed Link: 31509211
Variant Present in the following documents:
  • jamanetwopen-2-e1911130-s001.pdf
View BVdb publication page



Exome sequencing of Finnish isolates enhances rare-variant association power.

Nature
AE Locke, KM Steinberg, CWK Chiang, SK Service, AS Havulinna, L Stell, M Pirinen, HJ Abel, CC Chiang, RS Fulton, AU Jackson, CJ Kang, KL Kanchi, DC Koboldt, DE Larson, J Nelson, TJ Nicholas, A Pietilä, V Ramensky, D Ray, LJ Scott, HM Stringham, J Vangipurapu, R Welch, P Yajnik, X Yin, JG Eriksson, M Ala-Korpela, MR Järvelin, M Männikkö, H Laivuori, , SK Dutcher, NO Stitziel, RK Wilson, IM Hall, C Sabatti, A Palotie, V Salomaa, M Laakso, S Ripatti, M Boehnke, NB Freimer
Publication Date: 2019-08

Variant appearance in text: rs625619
PubMed Link: 31367044
Variant Present in the following documents:
  • EMS83607-supplement-Supplementary_Tables.xlsx
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: rs625619
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.657+82G>A - intron_variant - 4/11
ENST00000452118.2 c.*301+82G>A - intron_variant - 5/5
ENST00000490692.1 n.1478+82G>A - intron_variant,non_coding_transcript_variant - 1/7
ENST00000543384.1 c.57+82G>A - intron_variant - 2/9
NM_174936.4 c.657+82G>A - intron_variant - 4/11
NR_110451.1 n.316+82G>A - intron_variant,non_coding_transcript_variant - 2/9