Variant ID: 1-55524971-T-C

NM_174936.3(PCSK9):c.1504-188T>C

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: rs11206516
PubMed Link: 31714636
Variant Present in the following documents:
  • ANA-87-30-s001.docx
View BVdb publication page



Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.

American Journal Of Human Genetics
MA Coram, Q Duan, TJ Hoffmann, T Thornton, JW Knowles, NA Johnson, HM Ochs-Balcom, TA Donlon, LW Martin, CB Eaton, JG Robinson, NJ Risch, X Zhu, C Kooperberg, Y Li, AP Reiner, H Tang
Publication Date: 2013-06-06

Variant appearance in text: rs11206516
PubMed Link: 23726366
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Complexity in the genetic architecture of leukoaraiosis in hypertensive sibships from the GENOA Study.

Bmc Medical Genomics
JA Smith, ST Turner, YV Sun, M Fornage, RJ Kelly, TH Mosley, CR Jack, IJ Kullo, SL Kardia
Publication Date: 2009-04-07

Variant appearance in text: rs11206516
PubMed Link: 19351393
Variant Present in the following documents:
  • 1755-8794-2-16-S1.xls
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.1504-188T>C - intron_variant - 9/11
ENST00000490692.1 n.2227+651T>C - intron_variant,non_coding_transcript_variant - 6/7
ENST00000543384.1 c.*51-188T>C - intron_variant - 7/9
NM_174936.4 c.1504-188T>C - intron_variant - 9/11
NR_110451.1 n.1111-188T>C - intron_variant,non_coding_transcript_variant - 7/9