Variant ID: 1-55519015-G-T


This variant was identified in 3 publications


Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in the Brain and Relevance for Neuropsychiatric Disorders.

Frontiers In Neuroscience
EM O'Connell, FW Lohoff
Publication Date: 2020

Variant appearance in text: N/A
PMID: 32595449
View BVdb publication page

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: N/A
PMID: 30774981
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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: rs639750
PMID: 18300938
View BVdb publication page

Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000302118.5 c.799+551G>T - intron_variant - 5/11
ENST00000490692.1 n.1620+551G>T - intron_variant,non_coding_transcript_variant - 2/7
ENST00000543384.1 c.199+551G>T - intron_variant - 3/9
NM_174936.4 c.799+551G>T - intron_variant - 5/11
NR_110451.1 n.458+551G>T - intron_variant,non_coding_transcript_variant - 3/9