PMID: 24507774

Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks.

American journal of human genetics
GM Peloso, PL Auer, JC Bis, A Voorman, AC Morrison, NO Stitziel, JA Brody, SA Khetarpal, JR Crosby, M Fornage, A Isaacs, J Jakobsdottir, MF Feitosa, G Davies, JE Huffman, A Manichaikul, B Davis, K Lohman, AY Joon, AV Smith, ML Grove, P Zanoni, V Redon, S Demissie, K Lawson, U Peters, C Carlson, RD Jackson, KK Ryckman, RH Mackey, JG Robinson, DS Siscovick, PJ Schreiner, JC Mychaleckyj, JS Pankow, A Hofman, AG Uitterlinden, TB Harris, KD Taylor, JM Stafford, LM Reynolds, RE Marioni, A Dehghan, OH Franco, AP Patel, Y Lu, G Hindy, O Gottesman, EP Bottinger, O Melander, M Orho-Melander, RJ Loos, S Duga, PA Merlini, M Farrall, A Goel, R Asselta, D Girelli, N Martinelli, SH Shah, WE Kraus, M Li, DJ Rader, MP Reilly, R McPherson, H Watkins, D Ardissino, , Q Zhang, J Wang, MY Tsai, HA Taylor, A Correa, ME Griswold, LA Lange, JM Starr, I Rudan, G Eiriksdottir, LJ Launer, JM Ordovas, D Levy, YD Chen, AP Reiner, C Hayward, O Polasek, IJ Deary, IB Borecki, Y Liu, V Gudnason, JG Wilson, CM van Duijn, C Kooperberg, SS Rich, BM Psaty, JI Rotter, CJ O'Donnell, K Rice, E Boerwinkle, S Kathiresan, LA Cupples
2014-02-06

26 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-67976851-C-T LCAT c.340G>A p.Val114Met Missense 3/6 -
18-47109955-A-G LIPG c.1187A>G p.Asn396Ser Missense 8/10 -
11-116655600-G-A ZPR1 c.791C>T p.Ala264Val Missense 8/14 -
19-45296806-C-T CBLC c.1213C>T p.His405Tyr Missense 8/11 -
19-45296806-C-G CBLC c.1213C>G p.His405Asp Missense 8/11 -
1-55529215-C-A PCSK9 c.2037C>A p.Cys679* Nonsense 12/12 -
11-116701353-C-G APOC3 c.55C>G p.Arg19Gly Missense 2/4 -
15-43820717-C-T MAP1A c.7046C>T p.Pro2349Leu Missense 4/6 -
11-116660686-G-A APOA5 c.*158C>T - 3-UTRSNV 4/4 -
19-8429323-G-A ANGPTL4 c.118G>A p.Glu40Lys Missense 1/7 -
19-11347493-T-C DOCK6 c.2136A>G p.Thr712Thr Synonymous 19/48 -
2-21229160-C-T APOB c.10580G>A p.Arg3527Gln Missense 26/29 -
19-11350488-C-T ANGPTL8 c.175C>T p.Arg59Trp Missense 1/4 -
11-116701353-C-T APOC3 c.55C>T p.Arg19* Nonsense 2/4 -
11-117089205-C-T PCSK7 c.1511G>A p.Arg504His Missense 12/17 -
1-55512222-C-G PCSK9 c.426C>G p.Tyr142* Nonsense 3/12 -
11-116701560-G-T APOC3 c.127G>T p.Ala43Ser Missense 3/4 -
19-11350874-C-T ANGPTL8 c.361C>T p.Gln121* Nonsense 2/4 -
8-19813529-A-G LPL c.953A>G p.Asn318Ser Missense 6/10 -
11-116701560-G-A APOC3 c.127G>A p.Ala43Thr Missense 3/4 -
21-46875775-G-A COL18A1 c.331G>A p.Gly111Arg Missense 1/41 -
19-45412040-C-T APOE c.487C>T p.Arg163Cys Missense 4/4 -
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 -
16-56995908-T-A CETP c.17T>A p.Val6Asp Missense 1/16 -
11-116701613-G-T APOC3 c.179+1G>T - IntronicSNV - 3/3