PMID: 18193044

Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.

Nature genetics
S Kathiresan, O Melander, C Guiducci, A Surti, NP Burtt, MJ Rieder, GM Cooper, C Roos, BF Voight, AS Havulinna, B Wahlstrand, T Hedner, D Corella, ES Tai, JM Ordovas, G Berglund, E Vartiainen, P Jousilahti, B Hedblad, MR Taskinen, C Newton-Cheh, V Salomaa, L Peltonen, L Groop, DM Altshuler, M Orho-Melander
2008-02

13 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-19329924-C-T NCAN c.274C>T p.Pro92Ser Missense 3/15 -
7-73011774-AG-AA MLXIPL c.1340_1341delCTinsAA p.Ser447* Nonsense 9/17 -
9-107647655-G-T ABCA1 c.161-806C>A - IntronicSNV - 3/49
1-230295691-G-A GALNT2 c.127-18273G>A - IntronicSNV - 1/15
11-116619073-C-T BUD13 c.*125G>A - 3-UTRSNV 10/10 -
1-55505647-G-A PCSK9 c.137G>A p.Arg46His Missense 1/12 -
19-19329924-C-A NCAN c.274C>A p.Pro92Thr Missense 3/15 -
11-116619073-C-G BUD13 c.*125G>C - 3-UTRSNV 10/10 -
7-72982874-C-T TBL2 c.*1963G>A - IntergenicSNV 7/7 -
5-74648603-A-T HMGCR c.1368+1176A>T - IntronicSNV - 11/19
9-107647655-G-A ABCA1 c.161-806C>T - IntronicSNV - 3/49
2-21232195-G-A APOB c.7545C>T p.Thr2515Thr Synonymous 26/29 -
11-96126682-T-G JRKL c.*1294T>G - 3-UTRSNV 1/1 -