PMID: 27422940

Association of Exome Sequences With Cardiovascular Traits Among Blacks in the Jackson Heart Study.

Circulation. Cardiovascular genetics
GM Peloso, LA Lange, TV Varga, DA Nickerson, JD Smith, ME Griswold, S Musani, LM Polfus, H Mei, S Gabriel, RC Quarells, D Altshuler, E Boerwinkle, MJ Daly, B Neale, A Correa, AP Reiner, JG Wilson, S Kathiresan
2016-08

25 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
9-79867171-C-T VPS13A c.2191C>T p.Arg731* Nonsense 22/69 -
1-55512222-C-G PCSK9 c.426C>G p.Tyr142* Nonsense 3/12 -
1-55518419-G-A PCSK9 c.754G>A p.Val252Met Missense 5/12 -
9-79959195-GA-CT VPS13A c.7153_7154delGAinsCT p.Glu2385Leu Missense 51/69 -
1-55527221-C-T PCSK9 c.1855C>T p.Gln619* Nonsense 11/12 -
11-116703485-G-A APOC3 c.185G>A p.Trp62* Nonsense 4/4 -
3-114018467-C-T TIGIT c.415C>T p.Gln139* Nonsense 3/4 -
11-116701613-G-T APOC3 c.179+1G>T - IntronicSNV - 3/3
1-55518064-G-A PCSK9 c.637G>A p.Gly213Arg Missense 4/12 -
1-55518064-G-C PCSK9 c.637G>C p.Gly213Arg Missense 4/12 -
16-230724-G-C HBQ1 c.155G>C p.Gly52Ala Missense 2/3 -
11-116703486-G-A APOC3 c.186G>A p.Trp62* Nonsense 4/4 -
1-55529215-C-A PCSK9 c.2037C>A p.Cys679* Nonsense 12/12 -
1-55518422-C-T PCSK9 c.757C>T p.Leu253Phe Missense 5/12 -
12-102591474-TG-TT PMCH c.74_75delCAinsTT p.Ser25Phe Missense 1/3 -
11-116701353-C-T APOC3 c.55C>T p.Arg19* Nonsense 2/4 -
12-102591383-T-C PMCH c.166A>G p.Lys56Glu Missense 1/3 -
1-55512262-T-C PCSK9 c.466T>C p.Trp156Arg Missense 3/12 -
9-79973335-G-T VPS13A c.8016G>T p.Lys2672Asn Missense 57/69 -
9-79917908-G-A VPS13A c.3890G>A p.Arg1297Gln Missense 34/69 -
9-79852982-C-T VPS13A c.1660C>T p.Leu554Phe Missense 18/69 -
6-7889012-GTG-G TXNDC5 c.890_891delCA p.Thr297Argfs*19 Frameshift 7/10 -
1-55512262-T-A PCSK9 c.466T>A p.Trp156Arg Missense 3/12 -
9-79973335-G-C VPS13A c.8016G>C p.Lys2672Asn Missense 57/69 -
9-79973337-C-T VPS13A c.8018C>T p.Ser2673Leu Missense 57/69 -