PMID: 26366554

Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers.

Nature genetics
C Sidore, F Busonero, A Maschio, E Porcu, S Naitza, M Zoledziewska, A Mulas, G Pistis, M Steri, F Danjou, A Kwong, VD Ortega Del Vecchyo, CWK Chiang, J Bragg-Gresham, M Pitzalis, R Nagaraja, B Tarrier, C Brennan, S Uzzau, C Fuchsberger, R Atzeni, F Reinier, R Berutti, J Huang, NJ Timpson, D Toniolo, P Gasparini, G Malerba, G Dedoussis, E Zeggini, N Soranzo, C Jones, R Lyons, A Angius, HM Kang, J Novembre, S Sanna, D Schlessinger, F Cucca, GR Abecasis
2015-11

28 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-207684359-T-G CR1 c.402-555T>G - IntronicSNV - 3/38
1-207688373-T-C CR1 c.487+3374T>C - IntronicSNV - 4/38
9-15305378-G-C TTC39B c.240+1704C>G - IntronicSNV - 1/19
9-136142355-G-T ABO c.29-4784C>A - IntronicSNV - 1/7
2-44072576-G-C ABCG8 c.166-718G>C - IntronicSNV - 2/12
9-136142355-G-A ABO c.29-4784C>T - IntronicSNV - 1/7
12-121139532-C-G MLEC c.*5184C>G - 3-UTRSNV 5/5 -
3-52568805-G-T NT5DC2 c.1-136C>A - 5-UTRSNV 1/14 -
1-55527099-T-C PCSK9 c.1733T>C p.Val578Ala Missense 11/12 -
1-159175494-C-T ACKR1 c.265C>T p.Arg89Cys Missense 2/2 -
1-25724005-C-A RHCE c.486+5082G>T - IntronicSNV - 3/9
1-25724005-C-T RHCE c.486+5082G>A - IntronicSNV - 3/9
8-19815256-A-T LPL c.1019-1515A>T - IntronicSNV - 6/9
1-154428283-A-G IL6R c.1160+1226A>G - IntronicSNV - 9/9
2-44072576-G-T ABCG8 c.166-718G>T - IntronicSNV - 2/12
19-55175983-T-A LILRB4 c.655+47T>A - IntronicSNV - 4/11
17-45425115-G-T EFCAB13 c.518-59G>T - IntronicSNV - 8/24
19-11224104-T-C LDLR c.1337T>C p.Leu446Pro Missense 9/18 -
11-5248004-G-A HBB c.118C>T p.Gln40* Nonsense 2/3 -
1-159175354-G-A ACKR1 c.125G>A p.Gly42Asp Missense 2/2 -
8-17450500-G-A PDGFRL c.353+3226G>A - IntronicSNV - 3/6
19-11227562-T-C LDLR c.1733T>C p.Val578Ala Missense 12/18 -
19-19456917-C-T MAU2 c.1221+739C>T - IntronicSNV - 12/18
17-45425115-G-A EFCAB13 c.518-59G>A - IntronicSNV - 8/24
12-121428455-G-A HNF1A c.526+1620G>A - IntronicSNV - 2/9
1-159162174-G-T CADM3 c.332-194G>T - IntronicSNV - 3/9
1-159164454-T-C CADM3 c.793+624T>C - IntronicSNV - 6/9
11-116661101-G-T APOA5 c.844C>A p.Arg282Ser Missense 4/4 -