PMID: 31509211

A Genetic Approach to the Association Between PCSK9 and Sepsis.

JAMA network open
Q Feng, WQ Wei, S Chaugai, BG Carranza Leon, V Kawai, DA Carranza Leon, L Jiang, X Zhong, G Liu, A Ihegword, CM Shaffer, MF Linton, CP Chung, CM Stein
2019-09-04

29 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-54532687-A-G TCEANC2 c.103-1742A>G - IntronicSNV - 2/4
1-55518166-G-T PCSK9 c.657+82G>T - IntronicSNV - 4/11
1-55529187-G-A PCSK9 c.2009G>A p.Gly670Glu Missense 12/12 -
1-55518166-G-C PCSK9 c.657+82G>C - IntronicSNV - 4/11
1-55513061-T-C PCSK9 c.523+742T>C - IntronicSNV - 3/11
1-54660252-C-A CYB5RL c.198+840G>T - IntronicSNV - 3/7
1-54660252-C-T CYB5RL c.198+840G>A - IntronicSNV - 3/7
1-55522674-C-T PCSK9 c.997-330C>T - IntronicSNV - 6/11
1-54637417-G-A CYB5RL c.*2875C>T - IntergenicSNV 8/8 -
1-55518166-G-A PCSK9 c.657+82G>A - IntronicSNV - 4/11
1-54803850-A-C SSBP3 c.277-56650T>G - IntronicSNV - 4/16
1-55505668-C-G PCSK9 c.158C>G p.Ala53Gly Missense 1/12 -
1-55505647-G-A PCSK9 c.137G>A p.Arg46His Missense 1/12 -
1-54677786-G-A MRPL37 c.833-388G>A - IntronicSNV - 4/6
1-55524601-G-C PCSK9 c.1503+281G>C - IntronicSNV - 9/11
1-54654129-G-T CYB5RL c.348-717C>A - IntronicSNV - 4/7
1-55524601-G-A PCSK9 c.1503+281G>A - IntronicSNV - 9/11
1-55518752-C-T PCSK9 c.799+288C>T - IntronicSNV - 5/11
1-55519015-G-A PCSK9 c.799+551G>A - IntronicSNV - 5/11
1-55505647-G-T PCSK9 c.137G>T p.Arg46Leu Missense 1/12 -
1-55647272-T-C USP24 c.325-3467A>G - IntronicSNV - 1/67
1-54762343-C-T SSBP3 c.277-15143G>A - IntronicSNV - 4/16
1-55505668-C-T PCSK9 c.158C>T p.Ala53Val Missense 1/12 -
1-55524237-G-A PCSK9 c.1420G>A p.Val474Ile Missense 9/12 -
1-54566310-G-A TCEANC2 c.*4164G>A - IntergenicSNV 5/5 -
11-66618724-GC-AG PC c.2009_2010delGCinsAG p.Gly670Glu Missense 17/23 -
1-55519015-G-T PCSK9 c.799+551G>T - IntronicSNV - 5/11
1-54557290-C-T TCEANC2 c.438+2827C>T - IntronicSNV - 4/4
1-54535919-G-A TCEANC2 c.244+1349G>A - IntronicSNV - 3/4