PMID: 25502880

Comprehensive evaluation of the association of APOE genetic variation with plasma lipoprotein traits in U.S. whites and African blacks.

PloS one
Radwan, Zaheda H ZH, Wang, Xingbin X, Waqar, Fahad F, Pirim, Dilek D, Niemsiri, Vipavee V, Hokanson, John E JE, Hamman, Richard F RF, Bunker, Clareann H CH, Barmada, M Michael MM, Demirci, F Yesim FY, Kamboh, M Ilyas MI
2014

22 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-45410911-T-G APOE c.44-106T>G - IntronicSNV - 2/3
19-45410444-G-A APOE c.43+520G>A - IntronicSNV - 2/3
19-45409579-C-G APOE c.1-303C>G - IntronicSNV - 1/3
19-45409579-C-T APOE c.1-303C>T - IntronicSNV - 1/3
19-45409167-C-G APOE c.-24+69C>G - intron_variant - 1/3
19-45409167-C-T APOE c.-24+69C>T - intron_variant - 1/3
19-45412314-T-A APOE c.761T>A p.V254E Missense 4/4 -
19-45411110-T-C APOE c.137T>C p.L46P Missense 3/4 -
19-45412040-C-T APOE c.487C>T p.R163C Missense 4/4 -
19-45410273-G-A APOE c.43+349G>A - IntronicSNV - 2/3
19-45411677-C-G APOE c.237-113C>G - IntronicSNV - 3/3
19-45409283-C-A APOE c.-24+185C>A - intron_variant - 1/3
19-45409283-C-T APOE c.-24+185C>T - intron_variant - 1/3
19-45410548-A-G APOE c.44-469A>G - IntronicSNV - 2/3
19-45412532-C-T APOE c.*25C>T - 3-UTRSNV 4/4 -
19-45410076-G-A APOE c.43+152G>A - IntronicSNV - 2/3
19-45409113-C-T APOE c.-24+15C>T - intron_variant - 1/3
19-45411677-C-T APOE c.237-113C>T - IntronicSNV - 3/3
19-45409543-A-G APOE c.1-339A>G - IntronicSNV - 1/3
19-45409595-G-C APOE c.1-287G>C - IntronicSNV - 1/3
19-45409595-G-T APOE c.1-287G>T - IntronicSNV - 1/3
19-45411042-G-A APOE c.69G>A p.A23= Synonymous 3/4 -