PMID: 27182959

Targeted exonic sequencing of GWAS loci in the high extremes of the plasma lipids distribution.

Atherosclerosis
AP Patel, GM Peloso, JP Pirruccello, CT Johansen, JB Dubé, DB Larach, MR Ban, GM Dallinge-Thie, N Gupta, M Boehnke, GR Abecasis, JJ Kastelein, GK Hovingh, RA Hegele, DJ Rader, S Kathiresan
2016-07

10 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
8-19819724-C-G LPL c.1421C>G p.Ser474* Nonsense 9/10 -
16-57017319-G-A CETP c.1403G>A p.Arg468Gln Missense 15/16 -
2-21263900-G-A APOB c.293C>T p.Thr98Ile Missense 4/29 -
11-116648917-G-C ZPR1 c.*724C>G - IntergenicSNV 14/14 -
11-116662407-G-C APOA5 c.56C>G p.Ser19Trp Missense 3/4 -
11-116662407-G-A APOA5 c.56C>T p.Ser19Leu Missense 3/4 -
11-116655600-G-A ZPR1 c.791C>T p.Ala264Val Missense 8/14 -
16-56995947-CC-GG CETP c.56_57delCCinsGG p.Ser19Trp Missense 1/16 -
11-116655600-G-C ZPR1 c.791C>G p.Ala264Gly Missense 8/14 -
11-116692334-C-T APOA4 c.440G>A p.Ser147Asn Missense 3/3 -