PMID: 25542012

Prospective associations of coronary heart disease loci in African Americans using the MetaboChip: the PAGE study.

PloS one
N Franceschini, Y Hu, AP Reiner, S Buyske, M Nalls, LR Yanek, Y Li, LA Hindorff, SA Cole, BV Howard, JM Stafford, CL Carty, P Sethupathy, LW Martin, DY Lin, KC Johnson, LC Becker, KE North, A Dehghan, JC Bis, Y Liu, P Greenland, JE Manson, N Maeda, M Garcia, TB Harris, DM Becker, C O'Donnell, G Heiss, C Kooperberg, E Boerwinkle
2014

39 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
3-138122122-C-A MRAS c.*1011C>A - 3-UTRSNV 6/6 -
2-44128912-C-T LRPPRC c.3365-249G>A - IntronicSNV - 31/37
2-21262756-G-A APOB c.383+1054C>T - IntronicSNV - 4/28
10-91002927-C-T LIPA c.229+2506G>A - IntronicSNV - 3/9
1-222823529-A-T MIA3 c.3632-105A>T - IntronicSNV - 8/27
1-222823529-A-G MIA3 c.3632-105A>G - IntronicSNV - 8/27
1-154422067-T-C IL6R c.997-320T>C - IntronicSNV - 7/9
1-222853030-C-T AIDA c.461-3470G>A - IntronicSNV - 6/9
17-47005193-A-G UBE2Z c.*697A>G - 3-UTRSNV 7/7 -
19-11146499-T-C SMARCA4 c.4170+691T>C - IntronicSNV - 29/34
1-56962821-A-G PLPP3 c.811-473T>C - IntronicSNV - 5/5
2-44073881-T-C ABCG8 c.322+431T>C - IntronicSNV - 3/12
13-110960712-A-G COL4A2 c.99+242A>G - IntronicSNV - 3/47
14-100133942-T-C HHIPL1 c.1649-617T>C - IntronicSNV - 6/8
6-134213181-C-T TCF21 c.*241C>T - IntronicSNV 3/3 -
6-160798048-A-G SLC22A3 c.430-20963A>G - IntronicSNV - 1/10
8-19813180-G-A LPL c.776-172G>A - IntronicSNV - 5/9
6-12901441-C-A PHACTR1 c.250+151419C>A - IntronicSNV - 4/14
6-12901441-C-G PHACTR1 c.250+151419C>G - IntronicSNV - 4/14
19-11163601-G-T SMARCA4 c.4425-5330G>T - IntronicSNV - 30/34
1-55517344-C-G PCSK9 c.524-607C>G - IntronicSNV - 3/11
2-203999240-A-G NBEAL1 c.3727-1160A>G - IntronicSNV - 26/54
5-131667353-A-G SLC22A4 c.952-96A>G - IntronicSNV - 5/9
10-91005854-C-T LIPA c.112-304G>A - IntronicSNV - 2/9
3-138122122-C-T MRAS c.*1011C>T - 3-UTRSNV 6/6 -
10-104719096-G-A CNNM2 c.1621+39238G>A - IntronicSNV - 1/7
1-55517344-C-T PCSK9 c.524-607C>T - IntronicSNV - 3/11
15-79089111-A-G ADAMTS7 c.640T>C p.Ser214Pro Missense 4/24 -
6-39174922-T-C KCNK5 c.187-11159A>G - IntronicSNV - 1/4
6-134213181-C-G TCF21 c.*241C>G - IntronicSNV 3/3 -
2-203745885-T-C WDR12 c.1195-225A>G - IntronicSNV - 12/12
6-161143608-T-G PLG c.1256+9T>G - IntronicSNV - 10/18
6-161143608-T-C PLG c.1256+9T>C - IntronicSNV - 10/18
1-56999575-G-A PLPP3 c.297+3052C>T - IntronicSNV - 2/5
14-100133942-T-A HHIPL1 c.1649-617T>A - IntronicSNV - 6/8
17-2126504-G-C SMG6 c.145+13282C>G - IntronicSNV - 3/11
13-28973621-G-A FLT1 c.1552-2416C>T - IntronicSNV - 11/29
14-100023396-C-A CCDC85C c.794-20971G>T - IntronicSNV - 1/5
1-222823529-A-C MIA3 c.3632-105A>C - IntronicSNV - 8/27