PMID: 29237685

Identity-by-Descent Mapping Identifies Major Locus for Serum Triglycerides in Amerindians Largely Explained by an APOC3 Founder Mutation.

Circulation. Cardiovascular genetics
WC Hsueh, AK Nair, S Kobes, P Chen, HHH Göring, TI Pollin, A Malhotra, WC Knowler, LJ Baier, RL Hanson
2017-12

17 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
11-116649538-A-G ZPR1 c.*103T>C - 3-UTRSNV 14/14 -
11-116655600-G-A ZPR1 c.791C>T p.Ala264Val Missense 8/14 -
11-116655600-G-C ZPR1 c.791C>G p.Ala264Gly Missense 8/14 -
11-116701353-C-T APOC3 c.55C>T p.Arg19* Nonsense 2/4 -
11-116728630-G-T SIK3 c.3407C>A - missense_variant 20/24 -
11-116660686-G-A APOA5 c.*158C>T - 3-UTRSNV 4/4 -
11-116807343-G-A SIK3 c.455-9247C>T - intron_variant - 3/23
11-116661826-T-C APOA5 c.162-43A>G - IntronicSNV - 3/3
11-116728630-G-A SIK3 c.3407C>T - missense_variant 20/24 -
11-116662579-C-T APOA5 c.1-3G>A - 5-UTRSNV 2/4 -
11-116648917-G-C ZPR1 c.*724C>G - IntergenicSNV 14/14 -
11-116652301-C-T ZPR1 c.1179+573G>A - IntronicSNV - 12/13
11-116662407-G-C APOA5 c.56C>G p.Ser19Trp Missense 3/4 -
11-116701500-G-A APOC3 c.67G>A p.Ala23Thr Missense 3/4 -
11-116701560-G-A APOC3 c.127G>A p.Ala43Thr Missense 3/4 -
11-116649765-G-A ZPR1 c.1256C>T p.Ala419Val Missense 14/14 -
11-116728630-G-C SIK3 c.3407C>G - missense_variant 20/24 -