PMID: 24622110

Multiancestral analysis of inflammation-related genetic variants and C-reactive protein in the population architecture using genomics and epidemiology study.

Circulation. Cardiovascular genetics
JM Kocarnik, SA Pendergrass, CL Carty, JS Pankow, FR Schumacher, I Cheng, P Durda, JL Ambite, E Deelman, NR Cook, S Liu, J Wactawski-Wende, C Hutter, K Brown-Gentry, S Wilson, LG Best, N Pankratz, CP Hong, SA Cole, VS Voruganti, P Bůžkova, NW Jorgensen, NS Jenny, LR Wilkens, CA Haiman, LN Kolonel, A Lacroix, K North, R Jackson, L Le Marchand, LA Hindorff, DC Crawford, M Gross, U Peters
2014-04

111 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
12-109895168-C-G KCTD10 c.527+267G>C - IntronicSNV - 5/6
11-47663049-A-G MTCH2 c.87+882T>C - IntronicSNV - 1/12
1-63049593-C-T DOCK7 c.1801-668G>A - IntronicSNV - 15/48
16-56996211-G-A CETP c.118+202G>A - IntronicSNV - 1/15
12-121424861-A-T HNF1A c.327-1775A>T - IntronicSNV - 1/9
12-121424861-A-C HNF1A c.327-1775A>C - IntronicSNV - 1/9
7-22768707-T-G IL6 c.324+282T>G - IntronicSNV - 3/4
7-22768707-T-A IL6 c.324+282T>A - IntronicSNV - 3/4
16-57017319-G-A CETP c.1403G>A p.Arg468Gln Missense 15/16 -
11-68201295-C-T LRP5 c.3989C>T p.Ala1330Val Missense 18/23 -
8-19813529-A-G LPL c.953A>G p.Asn318Ser Missense 6/10 -
16-83212398-G-T CDH13 c.484-38552G>T - IntronicSNV - 4/13
4-9935910-A-G SLC2A9 c.727+7627T>C - IntronicSNV - 7/12
8-118185733-A-G SLC30A8 c.*813A>G - 3-UTRSNV 8/8 -
1-240445596-T-C FMN2 c.4154-12526T>C - IntronicSNV - 7/17
16-83212398-G-A CDH13 c.484-38552G>A - IntronicSNV - 4/13
3-123094451-T-C ADCY5 c.1135-23023A>G - IntronicSNV - 1/20
4-9966380-A-G SLC2A9 c.594+15836T>C - IntronicSNV - 6/12
18-11987272-C-T IMPA2 c.96+5508C>T - IntronicSNV - 1/7
11-116662407-G-A APOA5 c.56C>T p.Ser19Leu Missense 3/4 -
2-198962831-C-T PLCL1 c.2920-3178C>T - IntronicSNV - 3/5
1-63049593-C-G DOCK7 c.1801-668G>C - IntronicSNV - 15/48
16-56997233-G-A CETP c.233+197G>A - IntronicSNV - 2/15
11-44253403-G-C EXT2 c.1762-500G>C - IntronicSNV - 10/13
6-20661034-A-C CDKAL1 c.371+11426A>C - IntronicSNV - 5/15
15-67458639-T-C SMAD3 c.533-478T>C - IntronicSNV - 3/8
2-28076708-C-A RBKS c.222+4598G>T - IntronicSNV - 2/7
11-116619073-C-G BUD13 c.*125G>C - 3-UTRSNV 10/10 -
16-28883241-A-T SH2B1 c.1450A>T p.Thr484Ser Missense 5/9 -
11-116619073-C-T BUD13 c.*125G>A - 3-UTRSNV 10/10 -
16-28883241-A-G SH2B1 c.1450A>G p.Thr484Ala Missense 5/9 -
20-36399580-G-T CTNNBL1 c.750+3134G>T - IntronicSNV - 7/15
9-107620835-G-A ABCA1 c.688C>T p.Arg230Cys Missense 7/50 -
11-45873091-A-C CRY2 c.215+3835A>C - intron_variant - 1/11
1-109814880-C-T CELSR2 c.7927-20C>T - IntronicSNV - 28/33
12-121424861-A-G HNF1A c.327-1775A>G - IntronicSNV - 1/9
16-56996211-G-C CETP c.118+202G>C - IntronicSNV - 1/15
2-44073881-T-C ABCG8 c.322+431T>C - IntronicSNV - 3/12
16-53825488-C-T FTO c.46-18564C>T - IntronicSNV - 1/8
6-151901409-C-T CCDC170 c.1093-5615C>T - IntronicSNV - 6/10
16-83212398-G-C CDH13 c.484-38552G>C - IntronicSNV - 4/13
1-63118196-A-T DOCK7 c.389+1200T>A - IntronicSNV - 4/48
16-56969148-G-A HERPUD1 c.149G>A p.Arg50His Missense 2/8 -
1-63118196-A-C DOCK7 c.389+1200T>G - IntronicSNV - 4/48
3-118948171-A-G B4GALT4 c.253+523T>C - IntronicSNV - 3/7
5-74648603-A-T HMGCR c.1368+1176A>T - IntronicSNV - 11/19
7-72864869-A-G BAZ1B c.3580+308T>C - IntronicSNV - 14/19
11-116652423-G-C ZPR1 c.1179+451C>G - IntronicSNV - 12/13
11-116652423-G-A ZPR1 c.1179+451C>T - IntronicSNV - 12/13
11-47336320-A-T MADD c.3961-451A>T - IntronicSNV - 26/32
11-116652423-G-T ZPR1 c.1179+451C>A - IntronicSNV - 12/13
5-74655726-C-T HMGCR c.2458-84C>T - IntronicSNV - 18/19
2-192914362-C-T TMEFF2 c.536+8043G>A - IntronicSNV - 5/9
16-56919348-C-G SLC12A3 c.1925+72C>G - IntronicSNV - 15/25
16-56919348-C-A SLC12A3 c.1925+72C>A - IntronicSNV - 15/25
2-21232195-G-A APOB c.7545C>T p.Thr2515Thr Synonymous 26/29 -
1-159683438-C-A CRP c.552G>T p.Leu184Leu Synonymous 2/2 -
1-159683438-C-T CRP c.552G>A p.Leu184Leu Synonymous 2/2 -
1-159683438-C-G CRP c.552G>C p.Leu184Leu Synonymous 2/2 -
11-47008379-A-G C11orf49 c.47-380A>G - IntronicSNV - 1/8
11-2824800-G-T KCNQ1 c.1794+25533G>T - IntronicSNV - 15/15
11-2858546-C-T KCNQ1 c.1795-10451C>T - IntronicSNV - 15/15
6-151847967-C-A CCDC170 c.58-9486C>A - IntronicSNV - 1/10
9-107647220-C-T ABCA1 c.161-371G>A - IntronicSNV - 3/49
6-151933175-A-G CCDC170 c.1711-3403A>G - IntronicSNV - 9/10
10-91372533-G-A PANK1 c.29-728C>T - IntronicSNV - 1/5
9-107657070-G-A ABCA1 c.67-5594C>T - IntronicSNV - 2/49
9-15289578-C-T TTC39B c.240+17504G>A - IntronicSNV - 1/19
9-107647655-G-A ABCA1 c.161-806C>T - IntronicSNV - 3/49
9-107647655-G-T ABCA1 c.161-806C>A - IntronicSNV - 3/49
10-3155237-A-T PFKP c.1155-74A>T - IntronicSNV - 11/21
5-74651084-A-G HMGCR c.1722+45A>G - IntronicSNV - 13/19
9-107639414-G-A ABCA1 c.421+5906C>T - IntronicSNV - 5/49
20-44576502-T-C PCIF1 c.*108T>C - 3-UTRSNV 17/17 -
14-79945162-A-G NRXN3 c.429+11417A>G - IntronicSNV - 2/6
19-11210912-C-G LDLR c.81C>G p.Cys27Trp Missense 2/18 -
19-11210912-C-A LDLR c.81C>A p.Cys27* Nonsense 2/18 -
19-11210912-C-T LDLR c.81C>T p.Cys27Cys Synonymous 2/18 -
2-198962243-G-T PLCL1 c.2920-3766G>T - IntronicSNV - 3/5
11-47286290-T-C NR1H3 c.808+2721T>C - IntronicSNV - 6/8
2-198962243-G-A PLCL1 c.2920-3766G>A - IntronicSNV - 3/5
4-6292915-A-G WFS1 c.461-9A>G - IntronicSNV - 4/7
8-11045161-G-T XKR6 c.764+12924C>A - IntronicSNV - 1/2
8-11045161-G-A XKR6 c.764+12924C>T - IntronicSNV - 1/2
16-57004889-G-A CETP c.528-56G>A - IntronicSNV - 5/15
6-20657564-A-G CDKAL1 c.371+7956A>G - IntronicSNV - 5/15
22-36695247-G-T MYH9 c.2977-159C>A - IntronicSNV - 23/40
11-116732512-G-T SIK3 c.2171+45C>A - intron_variant - 17/23
1-159684186-T-C CRP c.61+29A>G - IntronicSNV - 1/1
1-159684186-T-A CRP c.61+29A>T - IntronicSNV - 1/1
10-3155237-A-G PFKP c.1155-74A>G - IntronicSNV - 11/21
15-58727325-A-G LIPC c.88+3006A>G - IntronicSNV - 1/8
6-46363557-C-G RCAN2 c.225+60932G>C - IntronicSNV - 2/4
6-151252985-G-A MTHFD1L c.1257-4955G>A - IntronicSNV - 11/27
6-151936677-G-A CCDC170 c.1810G>A p.Val604Ile Missense 10/11 -
2-44065090-G-A ABCG5 c.148C>T p.Arg50Cys Missense 2/13 -
2-44065090-G-T ABCG5 c.148C>A p.Arg50Ser Missense 2/13 -
19-19789528-A-G ZNF101 c.131-7A>G - IntronicSNV - 2/3
2-192914362-C-A TMEFF2 c.536+8043G>T - IntronicSNV - 5/9
2-28076708-C-G RBKS c.222+4598G>C - IntronicSNV - 2/7
1-230294916-C-T GALNT2 c.127-19048C>T - IntronicSNV - 1/15
19-11163562-C-T SMARCA4 c.4425-5369C>T - IntronicSNV - 30/34
4-9922167-C-T SLC2A9 c.757G>A p.Val253Ile Missense 8/13 -
19-11728802-A-G ZNF627 c.*98A>G - 3-UTRSNV 4/4 -
19-11231087-TG-AC LDLR c.2029_2030delTGinsAC p.Cys677Thr Missense 14/18 -
2-21237544-G-T APOB c.3697-79C>A - IntronicSNV - 23/28
9-104362937-A-G GRIN3A c.2766+12721T>C - IntronicSNV - 6/8
11-116652207-C-T ZPR1 c.1179+667G>A - IntronicSNV - 12/13
2-21237544-G-A APOB c.3697-79C>T - IntronicSNV - 23/28
3-186572089-T-C ADIPOQ c.331T>C p.Tyr111His Missense 3/3 -
7-72877166-T-C BAZ1B c.3249+86A>G - IntronicSNV - 12/19