PMID: 19060910

Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.

Nature genetics
C Sabatti, SK Service, AL Hartikainen, A Pouta, S Ripatti, J Brodsky, CG Jones, NA Zaitlen, T Varilo, M Kaakinen, U Sovio, A Ruokonen, J Laitinen, E Jakkula, L Coin, C Hoggart, A Collins, H Turunen, S Gabriel, P Elliot, MI McCarthy, MJ Daly, MR Järvelin, NB Freimer, L Peltonen
2009-01

35 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
10-91372533-G-A PANK1 c.29-728C>T - IntronicSNV - 1/5
12-109895168-C-G KCTD10 c.527+267G>C - IntronicSNV - 5/6
1-63049593-C-T DOCK7 c.1801-668G>A - IntronicSNV - 15/48
9-107647220-C-T ABCA1 c.161-371G>A - IntronicSNV - 3/49
2-21237544-G-A APOB c.3697-79C>T - IntronicSNV - 23/28
1-154426264-C-G IL6R c.1067-700C>G - IntronicSNV - 8/9
10-91376975-C-A PANK1 c.29-5170G>T - IntronicSNV - 1/5
9-107648652-C-T ABCA1 c.161-1803G>A - IntronicSNV - 3/49
1-154426264-C-T IL6R c.1067-700C>T - IntronicSNV - 8/9
1-207875175-G-C CR1L c.1328+212G>C - IntronicSNV - 9/11
16-68024995-G-A DPEP2 c.732+23C>T - IntronicSNV - 6/10
1-63049593-C-G DOCK7 c.1801-668G>C - IntronicSNV - 15/48
11-61580635-C-T FADS1 c.486+80G>A - IntronicSNV - 2/11
1-207875175-G-T CR1L c.1328+212G>T - IntronicSNV - 9/11
11-47270255-C-T ACP2 c.86G>A p.Arg29Gln Missense 1/11 -
12-121431225-G-A HNF1A c.527-98G>A - IntronicSNV - 2/9
11-116619073-C-G BUD13 c.*125G>C - 3-UTRSNV 10/10 -
1-62931632-C-A DOCK7 c.6119+8021G>T - IntronicSNV - 47/48
11-116619073-C-T BUD13 c.*125G>A - 3-UTRSNV 10/10 -
9-107658385-G-A ABCA1 c.67-6909C>T - IntronicSNV - 2/49
9-107647655-G-T ABCA1 c.161-806C>A - IntronicSNV - 3/49
5-74648603-A-T HMGCR c.1368+1176A>T - IntronicSNV - 11/19
11-61597972-A-G FADS2 c.207+1903A>G - IntronicSNV - 1/11
11-116621963-T-G BUD13 c.1767-2672A>C - IntronicSNV - 9/9
7-72982874-C-T TBL2 c.*1963G>A - IntergenicSNV 7/7 -
19-45395266-G-A TOMM40 c.274+320G>A - IntronicSNV - 2/9
9-107647655-G-A ABCA1 c.161-806C>T - IntronicSNV - 3/49
X-66942625-G-A AR c.2450-44G>A - IntronicSNV - 6/7
11-96126682-T-G JRKL c.*1294T>G - 3-UTRSNV 1/1 -
11-47286290-T-C NR1H3 c.808+2721T>C - IntronicSNV - 6/8
2-21232195-G-A APOB c.7545C>T p.Thr2515Thr Synonymous 26/29 -
11-116652207-C-T ZPR1 c.1179+667G>A - IntronicSNV - 12/13
11-61557803-T-C TMEM258 c.113+162A>G - IntronicSNV - 2/3
2-21237544-G-T APOB c.3697-79C>A - IntronicSNV - 23/28
1-230295691-G-A GALNT2 c.127-18273G>A - IntronicSNV - 1/15