PMID: 29632305

New Common and Rare Variants Influencing Metabolic Syndrome and Its Individual Components in a Korean Population.

Scientific reports
HS Lee, Y Kim, T Park
2018-04-09

14 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
12-111311929-T-C CCDC63 c.489+164T>C - IntronicSNV - 5/11
11-116652423-G-A ZPR1 c.1179+451C>T - IntronicSNV - 12/13
16-57017292-A-G CETP c.1376A>G p.Asp459Gly Missense 15/16 -
12-111333622-T-C CCDC63 c.1149+2668T>C - IntronicSNV - 9/11
11-116652423-G-C ZPR1 c.1179+451C>G - IntronicSNV - 12/13
11-116652423-G-T ZPR1 c.1179+451C>A - IntronicSNV - 12/13
16-57009022-G-A CETP c.940G>A p.Glu314Lys Missense 10/16 -
15-58724524-A-G LIPC c.88+205A>G - IntronicSNV - 1/8
2-27743154-A-G GCKR c.1572+1350A>G - IntronicSNV - 17/18
12-111338794-C-T CCDC63 c.1342+1865C>T - IntronicSNV - 10/11
12-111350655-A-G MYL2 c.402+245T>C - IntronicSNV - 6/6
16-57012379-T-G CETP c.1146+212T>G - IntronicSNV - 11/15
16-57012012-G-A CETP c.991G>A p.Gly331Ser Missense 11/16 -
16-57015091-G-C CETP c.1168G>C p.Ala390Pro Missense 12/16 -