PMID: 23300213

PCSK9 SNP rs11591147 is associated with low cholesterol levels but not with cognitive performance or noncardiovascular clinical events in an elderly population.

Journal of lipid research
I Postmus, S Trompet, AJ de Craen, BM Buckley, I Ford, DJ Stott, N Sattar, PE Slagboom, RG Westendorp, JW Jukema
2013-02

21 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55509872-T-C PCSK9 c.399+165T>C - IntronicSNV - 2/11
1-55513521-C-G PCSK9 c.523+1202C>G - IntronicSNV - 3/11
1-55529828-C-T PCSK9 c.*571C>T - 3-UTRSNV 12/12 -
1-55516004-C-A PCSK9 c.524-1947C>A - IntronicSNV - 3/11
1-55513061-T-C PCSK9 c.523+742T>C - IntronicSNV - 3/11
1-55529187-G-A PCSK9 c.2009G>A p.Gly670Glu Missense 12/12 -
1-55526296-A-C PCSK9 c.1682-752A>C - IntronicSNV - 10/11
1-55526296-A-G PCSK9 c.1682-752A>G - IntronicSNV - 10/11
1-55513521-C-A PCSK9 c.523+1202C>A - IntronicSNV - 3/11
1-55524237-G-A PCSK9 c.1420G>A p.Val474Ile Missense 9/12 -
1-55512549-T-A PCSK9 c.523+230T>A - IntronicSNV - 3/11
1-55509213-G-C PCSK9 c.208-303G>C - IntronicSNV - 1/11
1-55509213-G-A PCSK9 c.208-303G>A - IntronicSNV - 1/11
1-55505668-C-G PCSK9 c.158C>G p.Ala53Gly Missense 1/12 -
1-55505668-C-T PCSK9 c.158C>T p.Ala53Val Missense 1/12 -
1-55509900-C-T PCSK9 c.399+193C>T - IntronicSNV - 2/11
1-55505647-G-A PCSK9 c.137G>A p.Arg46His Missense 1/12 -
1-55528807-G-C PCSK9 c.1864-235G>C - IntronicSNV - 11/11
1-55518316-C-T PCSK9 c.658-7C>T - IntronicSNV - 4/11
1-55512549-T-C PCSK9 c.523+230T>C - IntronicSNV - 3/11
1-55525400-G-A PCSK9 c.1681+64G>A - IntronicSNV - 10/11