Variant ID: 1-55518682-C-T


This variant was identified in 2 publications


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: rs2479413
PMID: 25266949
View BVdb publication page

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: rs2479413
PMID: 20699424
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.799+218C>T - intron_variant - 5/11
ENST00000490692.1 n.1620+218C>T - intron_variant,non_coding_transcript_variant - 2/7
ENST00000543384.1 c.199+218C>T - intron_variant - 3/9
NM_174936.4 c.799+218C>T - intron_variant - 5/11
NR_110451.1 n.458+218C>T - intron_variant,non_coding_transcript_variant - 3/9