Variant ID: 1-55509355-C-T

NM_174936.3(PCSK9):c.208-161C>T

This variant was identified in 3 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: rs2495480
PubMed Link: 31714636
Variant Present in the following documents:
  • ANA-87-30-s001.docx
View BVdb publication page



Discovery of Allele-Specific Protein-RNA Interactions in Human Transcriptomes.

American Journal Of Human Genetics
E Bahrami-Samani, Y Xing
Publication Date: 2019-03-07

Variant appearance in text: rs2495480
PubMed Link: 30827501
Variant Present in the following documents:
  • mmc7.xlsx
View BVdb publication page



Newly identified loci that influence lipid concentrations and risk of coronary artery disease.

Nature Genetics
CJ Willer, S Sanna, AU Jackson, A Scuteri, LL Bonnycastle, R Clarke, SC Heath, NJ Timpson, SS Najjar, HM Stringham, J Strait, WL Duren, A Maschio, F Busonero, A Mulas, G Albai, AJ Swift, MA Morken, N Narisu, D Bennett, S Parish, H Shen, P Galan, P Meneton, S Hercberg, D Zelenika, WM Chen, Y Li, LJ Scott, PA Scheet, J Sundvall, RM Watanabe, R Nagaraja, S Ebrahim, DA Lawlor, Y Ben-Shlomo, G Davey-Smith, AR Shuldiner, R Collins, RN Bergman, M Uda, J Tuomilehto, A Cao, FS Collins, E Lakatta, GM Lathrop, M Boehnke, D Schlessinger, KL Mohlke, GR Abecasis
Publication Date: 2008-02

Variant appearance in text: rs2495480
PubMed Link: 18193043
Variant Present in the following documents:
  • NIHMS836655-supplement-Supplementary_Material.pdf
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.208-161C>T - intron_variant - 1/11
ENST00000452118.2 c.208-161C>T - intron_variant - 1/5
ENST00000543384.1 c.-78+3279C>T - intron_variant - 1/9
NM_174936.4 c.208-161C>T - intron_variant - 1/11
NR_110451.1 n.182+3279C>T - intron_variant,non_coding_transcript_variant - 1/9