PMID: 26493351

Association of the variants and haplotypes in the DOCK7, PCSK9 and GALNT2 genes and the risk of hyperlipidaemia.

Journal of cellular and molecular medicine
T Guo, RX Yin, WX Lin, W Wang, F Huang, SL Pan
2016-02

23 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-230294715-C-T GALNT2 c.127-19249C>T - IntronicSNV - 1/15
1-230283764-G-A GALNT2 c.127-30200G>A - IntronicSNV - 1/15
1-230326412-G-A GALNT2 c.220+12355G>A - IntronicSNV - 2/15
1-230237103-A-G GALNT2 c.126+33950A>G - IntronicSNV - 1/15
1-63025942-G-T DOCK7 c.2200-1051C>A - IntronicSNV - 19/48
1-55518752-C-T PCSK9 c.799+288C>T - IntronicSNV - 5/11
1-62996838-C-T DOCK7 c.3519-1721G>A - IntronicSNV - 28/48
1-55526296-A-C PCSK9 c.1682-752A>C - IntronicSNV - 10/11
1-55526296-A-G PCSK9 c.1682-752A>G - IntronicSNV - 10/11
1-63118196-A-C DOCK7 c.389+1200T>G - IntronicSNV - 4/48
1-55529187-G-A PCSK9 c.2009G>A p.Gly670Glu Missense 12/12 -
11-10328298-G-A ADM c.*110G>A - 3-UTRSNV 4/4 -
1-63118196-A-T DOCK7 c.389+1200T>A - IntronicSNV - 4/48
1-55528629-G-A PCSK9 c.1864-413G>A - IntronicSNV - 11/11
1-62996838-C-G DOCK7 c.3519-1721G>C - IntronicSNV - 28/48
1-62950858-C-T DOCK7 c.5415+2211G>A - IntronicSNV - 42/48
1-55526428-T-C PCSK9 c.1682-620T>C - IntronicSNV - 10/11
1-230295691-G-A GALNT2 c.127-18273G>A - IntronicSNV - 1/15
1-230294715-C-A GALNT2 c.127-19249C>A - IntronicSNV - 1/15
1-55529871-C-T PCSK9 c.*614C>T - 3-UTRSNV 12/12 -
1-55529871-C-G PCSK9 c.*614C>G - 3-UTRSNV 12/12 -
1-230386238-A-C GALNT2 c.941A>C p.Asp314Ala Missense 10/16 -
1-55526428-T-G PCSK9 c.1682-620T>G - IntronicSNV - 10/11