PMID: 30774981

A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR.

NPJ genomic medicine
Safarova, Maya S MS, Satterfield, Benjamin A BA, Fan, Xiao X, Austin, Erin E EE, Ye, Zhan Z, Bastarache, Lisa L, Zheng, Neil N, Ritchie, Marylyn D MD, Borthwick, Kenneth M KM, Williams, Marc S MS, Larson, Eric B EB, Scrol, Aaron A, Jarvik, Gail P GP, Crosslin, David R DR, Leppig, Kathleen K, Rasmussen-Torvik, Laura J LJ, Pendergrass, Sarah A SA, Sturm, Amy C AC, Namjou, Bahram B, Shah, Amy Sanghavi AS, Carroll, Robert J RJ, Chung, Wendy K WK, Wei, Wei-Qi WQ, Feng, QiPing Q, Stein, C Michael CM, Roden, Dan M DM, Manolio, Teri A TA, Schaid, Daniel J DJ, Denny, Joshua C JC, Hebbring, Scott J SJ, de Andrade, Mariza M, Kullo, Iftikhar J IJ
2019

20 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-11227480-A-C LDLR c.1706-55A>C - IntronicSNV - 11/17
19-11243445-A-G LDLR c.*1453A>G - 3-UTRSNV 18/18 -
1-55512995-G-A PCSK9 c.523+676G>A - IntronicSNV - 3/11
1-55512222-C-T PCSK9 c.426C>T p.Y142= Synonymous 3/12 -
2-21263900-G-A APOB c.293C>T p.T98I Missense 4/29 -
19-11210912-C-A LDLR c.81C>A p.C27* Nonsense 2/18 -
19-11210912-C-G LDLR c.81C>G p.C27W Missense 2/18 -
1-55529215-C-A PCSK9 c.2037C>A p.C679* Nonsense 12/12 -
1-55512222-C-G PCSK9 c.426C>G p.Y142* Nonsense 3/12 -
1-55505668-C-G PCSK9 c.158C>G p.A53G Missense 1/12 -
1-55505668-C-T PCSK9 c.158C>T p.A53V Missense 1/12 -
1-55529215-C-T PCSK9 c.2037C>T p.C679= Synonymous 12/12 -
19-11202306-G-T LDLR c.67+2015G>T - IntronicSNV - 1/17
1-55519015-G-A PCSK9 c.799+551G>A - IntronicSNV - 5/11
1-55519015-G-T PCSK9 c.799+551G>T - IntronicSNV - 5/11
19-11210912-C-T LDLR c.81C>T p.C27= Synonymous 2/18 -
19-11206575-G-A LDLR c.68-4324G>A - IntronicSNV - 1/17
2-21263639-T-G APOB c.383+171A>C - IntronicSNV - 4/28
19-11231203-G-A LDLR c.2140+5G>A - IntronicSNV - 14/17
2-21233972-T-C APOB c.5768A>G p.H1923R Missense 26/29 -