PMID: 27853278

Integrative mutation, haplotype and G × G interaction evidence connects ABGL4, LRP8 and PCSK9 genes to cardiometabolic risk.

Scientific reports
T Guo, RX Yin, LM Yao, F Huang, L Pan, WX Lin, DZ Yang, SL Pan
2016-11-17

19 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55524116-C-A PCSK9 c.1355-56C>A - IntronicSNV - 8/11
1-55524116-C-G PCSK9 c.1355-56C>G - IntronicSNV - 8/11
1-53786149-T-G LRP8 c.244+6396A>C - IntronicSNV - 2/18
1-53786149-T-A LRP8 c.244+6396A>T - IntronicSNV - 2/18
1-53787360-C-A LRP8 c.244+5185G>T - IntronicSNV - 2/18
1-53787360-C-T LRP8 c.244+5185G>A - IntronicSNV - 2/18
1-49074995-A-G AGBL4 c.952-18338T>C - IntronicSNV - 9/13
1-55524116-C-T PCSK9 c.1355-56C>T - IntronicSNV - 8/11
1-49075971-A-G AGBL4 c.952-19314T>C - IntronicSNV - 9/13
1-55524197-A-C PCSK9 c.1380A>C p.Val460Val Synonymous 9/12 -
1-55523984-C-T PCSK9 c.1354+102C>T - IntronicSNV - 8/11
1-53787673-C-T LRP8 c.244+4872G>A - IntronicSNV - 2/18
1-55524197-A-G PCSK9 c.1380A>G p.Val460Val Synonymous 9/12 -
1-49076126-G-C AGBL4 c.952-19469C>G - IntronicSNV - 9/13
1-49076126-G-A AGBL4 c.952-19469C>T - IntronicSNV - 9/13
1-53784098-A-G LRP8 c.244+8447T>C - IntronicSNV - 2/18
1-53787633-G-C LRP8 c.244+4912C>G - IntronicSNV - 2/18
1-55523361-A-G PCSK9 c.1180+174A>G - IntronicSNV - 7/11
1-53787633-G-A LRP8 c.244+4912C>T - IntronicSNV - 2/18