PMID: 32084179

Genetic associations between serum low LDL-cholesterol levels and variants in LDLR, APOB, PCSK9 and LDLRAP1 in African populations.

PloS one
M Hayat, R Kerr, AR Bentley, CN Rotimi, FJ Raal, M Ramsay
2020

15 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
19-11238239-C-G LDLR c.2312-445C>G - IntronicSNV - 15/17
1-55518622-T-C PCSK9 c.799+158T>C - IntronicSNV - 5/11
19-11242133-G-A LDLR c.*141G>A - 3-UTRSNV 18/18 -
2-21229860-A-G APOB c.9880T>C p.Ser3294Pro Missense 26/29 -
19-11226800-C-T LDLR c.1617C>T p.Pro539Pro Synonymous 11/18 -
2-21250914-G-A APOB c.1853C>T p.Ala618Val Missense 14/29 -
19-11210921-C-T LDLR c.90C>T p.Asn30Asn Synonymous 2/18 -
19-11210921-C-G LDLR c.90C>G p.Asn30Lys Missense 2/18 -
2-21260934-G-A APOB c.433C>T p.Pro145Ser Missense 5/29 -
2-21260934-G-C APOB c.433C>G p.Pro145Ala Missense 5/29 -
1-25889539-A-G LDLRAP1 c.533-22A>G - IntronicSNV - 5/8
1-55509872-T-C PCSK9 c.399+165T>C - IntronicSNV - 2/11
1-55518370-C-T PCSK9 c.705C>T p.Ser235Ser Synonymous 5/12 -
2-21245367-A-G APOB c.2816+336T>C - IntronicSNV - 18/28
19-11230881-T-C LDLR c.1959T>C p.Val653Val Synonymous 13/18 -