PMID: 27466198

Analysis with the exome array identifies multiple new independent variants in lipid loci.

Human molecular genetics
S Kanoni, NG Masca, KE Stirrups, TV Varga, HR Warren, RA Scott, L Southam, W Zhang, H Yaghootkar, M Müller-Nurasyid, A Couto Alves, RJ Strawbridge, L Lataniotis, N An Hashim, C Besse, A Boland, PS Braund, JM Connell, A Dominiczak, AE Farmaki, S Franks, H Grallert, JH Jansson, M Karaleftheri, S Keinänen-Kiukaanniemi, A Matchan, D Pasko, A Peters, N Poulter, NW Rayner, F Renström, O Rolandsson, M Sabater-Lleal, B Sennblad, P Sever, D Shields, A Silveira, AV Stanton, K Strauch, M Tomaszewski, E Tsafantakis, M Waldenberger, AI Blakemore, G Dedoussis, SA Escher, JS Kooner, MI McCarthy, CN Palmer, , A Hamsten, MJ Caulfield, TM Frayling, MD Tobin, MR Jarvelin, E Zeggini, C Gieger, JC Chambers, NJ Wareham, PB Munroe, PW Franks, NJ Samani, P Deloukas
2016-09-15

82 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
15-58830639-A-G LIPC c.196A>G p.Ile66Val Missense 2/9 -
6-160961137-T-C LPA c.5673A>G p.Ile1891Met Missense 36/39 -
9-107657070-G-A ABCA1 c.67-5594C>T - IntronicSNV - 2/49
8-19813529-A-G LPL c.953A>G p.Asn318Ser Missense 6/10 -
15-42436237-A-G PLA2G4F c.2081T>C p.Leu694Pro Missense 18/20 -
12-121416650-A-C HNF1A c.79A>C p.Ile27Leu Missense 1/10 -
4-103188709-C-A SLC39A8 c.1171G>T p.Ala391Ser Missense 7/8 -
1-55505647-G-A PCSK9 c.137G>A p.Arg46His Missense 1/12 -
2-21256318-AA-CC APOB c.976_977delTTinsCC p.Leu326Pro Missense 9/29 -
16-57016092-G-C CETP c.1264G>C p.Val422Leu Missense 14/16 -
19-19789528-A-G ZNF101 c.131-7A>G - IntronicSNV - 2/3
2-21263900-G-A APOB c.293C>T p.Thr98Ile Missense 4/29 -
2-44074431-C-T ABCG8 c.322+981C>T - IntronicSNV - 3/12
8-19824492-T-A LPL c.*1671T>A - 3-UTRSNV 10/10 -
19-45448036-T-C APOC4 c.107T>C p.Leu36Pro Missense 2/3 -
2-44074431-C-A ABCG8 c.322+981C>A - IntronicSNV - 3/12
15-58837989-G-A LIPC c.623G>A p.Arg208His Missense 5/9 -
8-19824492-T-C LPL c.*1671T>C - 3-UTRSNV 10/10 -
16-57016092-G-A CETP c.1264G>A p.Val422Ile Missense 14/16 -
16-53818708-G-T FTO c.46-25344G>T - IntronicSNV - 1/8
15-42683787-G-A CAPN3 c.946-1050G>A - IntronicSNV - 6/23
6-160578860-T-C SLC22A1 c.1599-688T>C - IntronicSNV - 10/10
18-47113165-C-G LIPG c.1426C>G p.Arg476Gly Missense 9/10 -
11-116648917-G-C ZPR1 c.*724C>G - IntergenicSNV 14/14 -
18-47113165-C-T LIPG c.1426C>T p.Arg476Trp Missense 9/10 -
11-116707044-A-T APOA1 c.284T>A p.Phe95Tyr Missense 4/4 -
2-44065090-G-A ABCG5 c.148C>T p.Arg50Cys Missense 2/13 -
7-73012042-G-A MLXIPL c.1073C>T p.Ala358Val Missense 9/17 -
16-57005479-C-A CETP c.658+186C>A - IntronicSNV - 7/15
8-19805708-G-C LPL c.106G>C p.Asp36His Missense 2/10 -
8-19805708-G-A LPL c.106G>A p.Asp36Asn Missense 2/10 -
6-31088145-T-A CDSN c.52A>T p.Met18Leu Missense 1/2 -
6-31088145-T-G CDSN c.52A>C p.Met18Leu Missense 1/2 -
12-121416650-A-T HNF1A c.79A>T p.Ile27Phe Missense 1/10 -
2-44065090-G-T ABCG5 c.148C>A p.Arg50Ser Missense 2/13 -
4-103188709-C-T SLC39A8 c.1171G>A p.Ala391Thr Missense 7/8 -
2-27550967-A-G GTF3C2 c.2346T>C p.Pro782Pro Synonymous 17/19 -
10-113940329-T-G GPAM c.127A>C p.Ile43Leu Missense 4/22 -
10-113940329-T-C GPAM c.127A>G p.Ile43Val Missense 4/22 -
16-57015091-G-C CETP c.1168G>C p.Ala390Pro Missense 12/16 -
18-47109955-A-C LIPG c.1187A>C p.Asn396Thr Missense 8/10 -
18-47109955-A-G LIPG c.1187A>G p.Asn396Ser Missense 8/10 -
16-57002732-T-G CETP c.234-566T>G - IntronicSNV - 2/15
9-107664301-C-T ABCA1 c.66+1594G>A - IntronicSNV - 2/49
19-45296806-C-T CBLC c.1213C>T p.His405Tyr Missense 8/11 -
7-72982874-C-T TBL2 c.*1963G>A - IntergenicSNV 7/7 -
19-45296806-C-G CBLC c.1213C>G p.His405Asp Missense 8/11 -
8-19824667-C-T LPL c.*1846C>T - 3-UTRSNV 10/10 -
11-116655600-G-A ZPR1 c.791C>T p.Ala264Val Missense 8/14 -
11-116655600-G-C ZPR1 c.791C>G p.Ala264Gly Missense 8/14 -
2-21242613-G-A APOB c.2981C>T p.Pro994Leu Missense 19/29 -
16-53809247-G-A FTO c.46-34805G>A - IntronicSNV - 1/8
6-31084048-A-G CDSN c.1344T>C p.Cys448Cys Synonymous 2/2 -
11-116653296-C-T ZPR1 c.1093-336G>A - IntronicSNV - 11/13
11-116653296-C-G ZPR1 c.1093-336G>C - IntronicSNV - 11/13
16-53809247-G-C FTO c.46-34805G>C - IntronicSNV - 1/8
1-55529187-G-A PCSK9 c.2009G>A p.Gly670Glu Missense 12/12 -
6-161018174-C-T LPA c.3288-1607G>A - IntronicSNV - 20/38
16-67976320-A-T LCAT c.694T>A p.Ser232Thr Missense 5/6 -
15-43820717-C-T MAP1A c.7046C>T p.Pro2349Leu Missense 4/6 -
16-67976320-A-C LCAT c.694T>G p.Ser232Ala Missense 5/6 -
19-8433196-C-A ANGPTL4 c.548-907C>A - IntronicSNV - 3/6
17-41926126-C-T CD300LG c.244C>T p.Arg82Cys Missense 2/7 -
8-19819724-C-G LPL c.1421C>G p.Ser474* Nonsense 9/10 -
12-121878707-C-A KDM2B c.3522G>T p.Leu1174Leu Synonymous 21/23 -
19-45410002-G-A APOE c.43+78G>A - IntronicSNV - 2/3
4-102816487-T-C BANK1 c.929T>C p.Val310Ala Missense 6/17 -
1-55505647-G-T PCSK9 c.137G>T p.Arg46Leu Missense 1/12 -
2-21229160-C-A APOB c.10580G>T p.Arg3527Leu Missense 26/29 -
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 -
2-21229160-C-T APOB c.10580G>A p.Arg3527Gln Missense 26/29 -
6-16145325-A-G MYLIP c.1025A>G p.Asn342Ser Missense 6/7 -
19-45448465-T-A APOC4 c.287T>A p.Leu96His Missense 3/3 -
19-45448465-T-G APOC4 c.287T>G p.Leu96Arg Missense 3/3 -
11-116701353-C-T APOC3 c.55C>T p.Arg19* Nonsense 2/4 -
7-72856430-T-C BAZ1B c.*96A>G - IntronicSNV - 19/19
15-44245931-A-T FRMD5 c.103-29424T>A - IntronicSNV - 1/13
6-31084435-G-A CDSN c.957C>T p.Tyr319Tyr Synonymous 2/2 -
2-21233972-T-C APOB c.5768A>G p.His1923Arg Missense 26/29 -
2-165540800-T-C COBLL1 c.*1656A>G - 3-UTRSNV 14/14 -
17-67081278-A-G ABCA6 c.4075T>C p.Cys1359Arg Missense 32/39 -