PMID: 24916650

Identifying genetic risk variants for coronary heart disease in familial hypercholesterolemia: an extreme genetics approach.

European journal of human genetics : EJHG
J Versmissen, DM Oosterveer, M Yazdanpanah, A Dehghan, H Hólm, J Erdman, YS Aulchenko, G Thorleifsson, H Schunkert, R Huijgen, R Vongpromek, AG Uitterlinden, JC Defesche, CM van Duijn, M Mulder, T Dadd, HD Karlsson, J Ordovas, I Kindt, A Jarman, A Hofman, L van Vark-van der Zee, AC Blommesteijn-Touw, J Kwekkeboom, AH Liem, FJ van der Ouderaa, S Calandra, S Bertolini, M Averna, G Langslet, L Ose, E Ros, F Almagro, PW de Leeuw, F Civeira, L Masana, X Pintó, ML Simoons, AF Schinkel, MR Green, AH Zwinderman, KJ Johnson, A Schaefer, A Neil, JC Witteman, SE Humphries, JJ Kastelein, EJ Sijbrands
2015-03

39 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
17-2117945-A-G SMG6 c.145+21841T>C - IntronicSNV - 3/11
X-32870932-T-C DMD c.94-2995A>G - IntronicSNV - 2/78
17-9200415-T-G STX8 c.644-46453A>C - IntronicSNV - 7/7
6-134213181-C-G TCF21 c.*241C>G - IntronicSNV 3/3 -
11-5443867-C-T OR51Q1 c.437C>T p.Thr146Ile Missense 1/1 -
17-9200415-T-A STX8 c.644-46453A>T - IntronicSNV - 7/7
17-9200415-T-C STX8 c.644-46453A>G - IntronicSNV - 7/7
19-11224210-G-A LDLR c.1359-1G>A - IntronicSNV - 9/17
2-203745885-T-C WDR12 c.1195-225A>G - IntronicSNV - 12/12
11-5466776-T-A OR51B5 c.-360+60023A>T - intron_variant - 1/4
4-54109623-C-T SCFD2 c.1311+30370G>A - IntronicSNV - 4/8
6-35031441-C-T ANKS1A c.2184+3411C>T - IntronicSNV - 13/23
14-100133942-T-A HHIPL1 c.1649-617T>A - IntronicSNV - 6/8
17-2126504-G-C SMG6 c.145+13282C>G - IntronicSNV - 3/11
3-138119952-T-C MRAS c.527+497T>C - IntronicSNV - 5/5
6-12927845-T-C PHACTR1 c.251-125752T>C - IntronicSNV - 4/14
6-35034800-G-C ANKS1A c.2184+6770G>C - IntronicSNV - 13/23
9-28336185-A-C LINGO2 c.-246+36649T>G - intron_variant - 4/6
4-155269388-C-A DCHS2 c.2477-13132G>T - IntronicSNV - 3/7
13-110960712-A-G COL4A2 c.99+242A>G - IntronicSNV - 3/47
13-32841619-C-T FRY c.8136+123C>T - IntronicSNV - 55/60
14-100133942-T-C HHIPL1 c.1649-617T>C - IntronicSNV - 6/8
6-134213181-C-T TCF21 c.*241C>T - IntronicSNV 3/3 -
11-5466776-T-G OR51B5 c.-360+60023A>C - intron_variant - 1/4
11-5416622-C-A OR51B5 c.-359-48482G>T - intron_variant - 1/4
1-56962821-A-G PLPP3 c.811-473T>C - IntronicSNV - 5/5
19-11166827-G-A SMARCA4 c.4425-2104G>A - IntronicSNV - 30/34
15-79089734-T-C ADAMTS7 c.622+556A>G - IntronicSNV - 3/23
4-167663664-A-G SPOCK3 c.932-454T>C - IntronicSNV - 8/10
11-5461991-C-A OR51I1 c.754G>T p.Ala252Ser Missense 1/1 -
1-56965664-C-T PLPP3 c.811-3316G>A - IntronicSNV - 5/5
6-12927845-T-A PHACTR1 c.251-125752T>A - IntronicSNV - 4/14
19-11163601-G-T SMARCA4 c.4425-5330G>T - IntronicSNV - 30/34
17-46988597-C-T UBE2Z c.390+355C>T - IntronicSNV - 2/6
11-5400141-T-G OR51B5 c.1-35387A>C - IntergenicSNV - 1/4
6-12927544-C-G PHACTR1 c.251-126053C>G - IntronicSNV - 4/14
7-98497625-G-A TRRAP c.800+235G>A - IntronicSNV - 10/70
15-79089111-A-G ADAMTS7 c.640T>C p.Ser214Pro Missense 4/24 -
11-5457631-T-C OR51B5 c.-360+69168A>G - intron_variant - 1/4