Variant ID: 1-55512995-G-A

NM_174936.3(PCSK9):c.523+676G>A

This variant was identified in 2 publications




Publications:


A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR.

Npj Genomic Medicine
MS Safarova, BA Satterfield, X Fan, EE Austin, Z Ye, L Bastarache, N Zheng, MD Ritchie, KM Borthwick, MS Williams, EB Larson, A Scrol, GP Jarvik, DR Crosslin, K Leppig, LJ Rasmussen-Torvik, SA Pendergrass, AC Sturm, B Namjou, AS Shah, RJ Carroll, WK Chung, WQ Wei, Q Feng, CM Stein, DM Roden, TA Manolio, DJ Schaid, JC Denny, SJ Hebbring, M de Andrade, IJ Kullo
Publication Date: 2019

Variant appearance in text: rs2495478
PMID: 30774981
View BVdb publication page



PCSK9 variation and association with blood pressure in African Americans: preliminary findings from the HyperGEN and REGARDS studies.

Frontiers In Genetics
NT Tran, S Aslibekyan, HK Tiwari, D Zhi, YJ Sung, SC Hunt, DC Rao, U Broeckel, SE Judd, P Muntner, ST Kent, DK Arnett, MR Irvin
Publication Date: 2015

Variant appearance in text: rs2495478
PMID: 25904937
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.523+676G>A - intron_variant - 3/11
ENST00000452118.2 c.523+676G>A - intron_variant - 3/5
ENST00000543384.1 c.-77-4956G>A - intron_variant - 1/9
NM_174936.4 c.523+676G>A - intron_variant - 3/11
NR_110451.1 n.183-4956G>A - intron_variant,non_coding_transcript_variant - 1/9