PMID: 30774981

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

NPJ genomic medicine
MS Safarova, BA Satterfield, X Fan, EE Austin, Z Ye, L Bastarache, N Zheng, MD Ritchie, KM Borthwick, MS Williams, EB Larson, A Scrol, GP Jarvik, DR Crosslin, K Leppig, LJ Rasmussen-Torvik, SA Pendergrass, AC Sturm, B Namjou, AS Shah, RJ Carroll, WK Chung, WQ Wei, Q Feng, CM Stein, DM Roden, TA Manolio, DJ Schaid, JC Denny, SJ Hebbring, M de Andrade, IJ Kullo
2019

22 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55512222-C-G PCSK9 c.426C>G p.Tyr142* Nonsense 3/12 -
19-11206575-G-A LDLR c.68-4324G>A - IntronicSNV - 1/17
1-55512222-C-T PCSK9 c.426C>T p.Tyr142Tyr Synonymous 3/12 -
1-55505668-C-G PCSK9 c.158C>G p.Ala53Gly Missense 1/12 -
2-21233972-T-C APOB c.5768A>G p.His1923Arg Missense 26/29 -
1-55505668-C-T PCSK9 c.158C>T p.Ala53Val Missense 1/12 -
19-11210912-C-A LDLR c.81C>A p.Cys27* Nonsense 2/18 -
19-11210912-C-G LDLR c.81C>G p.Cys27Trp Missense 2/18 -
19-11210912-C-T LDLR c.81C>T p.Cys27Cys Synonymous 2/18 -
1-55519015-G-T PCSK9 c.799+551G>T - IntronicSNV - 5/11
2-21263900-G-A APOB c.293C>T p.Thr98Ile Missense 4/29 -
2-21263639-T-G APOB c.383+171A>C - IntronicSNV - 4/28
1-55512995-G-A PCSK9 c.523+676G>A - IntronicSNV - 3/11
19-11231203-G-A LDLR c.2140+5G>A - IntronicSNV - 14/17
19-11227480-A-C LDLR c.1706-55A>C - IntronicSNV - 11/17
22-45253895-C-T PRR5-ARHGAP8 c.1271-1716C>T - intron_variant - 13/14
1-55529215-C-T PCSK9 c.2037C>T p.Cys679Cys Synonymous 12/12 -
1-55529215-C-A PCSK9 c.2037C>A p.Cys679* Nonsense 12/12 -
19-11243445-A-G LDLR c.*1453A>G - 3-UTRSNV 18/18 -
19-11202306-G-T LDLR c.67+2015G>T - IntronicSNV - 1/17
1-55505647-G-T PCSK9 c.137G>T p.Arg46Leu Missense 1/12 -
1-55519015-G-A PCSK9 c.799+551G>A - IntronicSNV - 5/11