PMID: 31910446

Genome-wide association study of metabolic syndrome in Korean populations.

PloS one
SW Oh, JE Lee, E Shin, H Kwon, EK Choe, SY Choi, H Rhee, SH Choi
2020

21 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-57006590-C-G CETP c.750+595C>G - IntronicSNV - 8/15
16-56996288-G-A CETP c.118+279G>A - IntronicSNV - 1/15
2-27801493-T-C C2orf16 c.2054T>C p.Val685Ala Missense 1/1 -
11-116648917-G-C ZPR1 c.*724C>G - IntergenicSNV 14/14 -
2-27742603-T-C GCKR c.1572+799T>C - IntronicSNV - 17/18
11-116654435-C-T ZPR1 c.892-100G>A - IntronicSNV - 9/13
16-57006590-C-T CETP c.750+595C>T - IntronicSNV - 8/15
11-116661392-C-T APOA5 c.553G>A p.Gly185Ser Missense 4/4 -
11-116661392-C-A APOA5 c.553G>T p.Gly185Cys Missense 4/4 -
11-92708710-C-G MTNR1B c.223+5596C>G - IntronicSNV - 1/1
2-27730940-T-C GCKR c.1337T>C p.Leu446Pro Missense 15/19 -
16-57017292-A-G CETP c.1376A>G p.Asp459Gly Missense 15/16 -
11-116652423-G-A ZPR1 c.1179+451C>T - IntronicSNV - 12/13
11-116652423-G-T ZPR1 c.1179+451C>A - IntronicSNV - 12/13
2-27801759-A-G C2orf16 c.2320A>G p.Ile774Val Missense 1/1 -
11-116652423-G-C ZPR1 c.1179+451C>G - IntronicSNV - 12/13
11-116660686-G-A APOA5 c.*158C>T - 3-UTRSNV 4/4 -
2-27730940-T-G GCKR c.1337T>G p.Leu446Arg Missense 15/19 -
2-27741237-T-C GCKR c.1423-418T>C - IntronicSNV - 16/18
2-27743154-A-G GCKR c.1572+1350A>G - IntronicSNV - 17/18
11-116628401-T-C BUD13 c.1684+81A>G - IntronicSNV - 8/9