PMID: 30166351

Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.

Journal of medical genetics
I Galván-Femenía, M Obón-Santacana, D Piñeyro, M Guindo-Martinez, X Duran, A Carreras, R Pluvinet, J Velasco, L Ramos, S Aussó, JM Mercader, L Puig, M Perucho, D Torrents, V Moreno, L Sumoy, R de Cid
2018-11

40 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
15-28530182-C-A HERC2 c.323-4749G>T - IntronicSNV - 4/92
11-89017961-G-A TYR c.1205G>A p.Arg402Gln Missense 4/5 -
6-1944345-G-A GMDS c.554-13881C>T - IntronicSNV - 6/10
15-28530182-C-T HERC2 c.323-4749G>A - IntronicSNV - 4/92
6-19839415-C-T ID4 c.*15-26C>T - intron_variant - 2/2
19-11202306-G-T LDLR c.67+2015G>T - IntronicSNV - 1/17
6-19839415-C-A ID4 c.*15-26C>A - intron_variant - 2/2
19-8670147-C-T ADAMTS10 c.185G>A p.Arg62Gln Missense 4/26 -
19-8670147-C-A ADAMTS10 c.185G>T p.Arg62Leu Missense 4/26 -
7-2068330-C-G MAD1L1 c.1219-14053G>C - IntronicSNV - 12/18
2-179725237-G-T CCDC141 c.2725-4113C>A - IntronicSNV - 17/23
6-396321-C-T IRF4 c.492+386C>T - IntronicSNV - 4/8
15-27398499-T-C GABRG3 c.270+126531T>C - IntronicSNV - 3/5
5-176772736-G-A LMAN2 c.315+5438C>T - IntronicSNV - 2/7
5-176772736-G-T LMAN2 c.315+5438C>A - IntronicSNV - 2/7
18-21039393-G-A RIOK3 c.64-3535G>A - IntronicSNV - 1/12
5-33951693-C-A SLC45A2 c.1122G>T p.Leu374Phe Missense 5/7 -
16-89755903-A-T CDK10 c.-54+171A>T - intron_variant - 2/12
16-90022693-T-C DEF8 c.405+1019T>C - IntronicSNV - 4/12
20-34025756-A-G GDF5 c.1-48T>C - 5-UTRSNV 1/2 -
17-29165934-C-G ATAD5 c.2076+1602C>G - IntronicSNV - 3/22
2-179786068-T-C CCDC141 c.898-2434A>G - IntronicSNV - 6/23
7-2068330-C-T MAD1L1 c.1219-14053G>A - IntronicSNV - 12/18
5-176735612-A-G MXD3 c.322-647T>C - IntronicSNV - 4/5
16-89818732-C-G FANCA c.2982-102G>C - IntronicSNV - 30/42
18-21039393-G-C RIOK3 c.64-3535G>C - IntronicSNV - 1/12
5-33951693-C-G SLC45A2 c.1122G>C p.Leu374Phe Missense 5/7 -
16-89755903-A-G CDK10 c.-54+171A>G - intron_variant - 2/12
16-89736157-C-T SPATA33 c.*252C>T - 3-UTRSNV 3/3 -
16-89986117-C-T MC1R c.451C>T p.Arg151Cys Missense 1/1 -
16-89986117-C-A MC1R c.451C>A p.Arg151Ser Missense 1/1 -
16-89986117-C-G MC1R c.451C>G p.Arg151Gly Missense 1/1 -
16-20046115-G-T GPR139 c.128-2124C>A - IntronicSNV - 1/1
16-20046115-G-A GPR139 c.128-2124C>T - IntronicSNV - 1/1
10-120465796-C-A CACUL1 c.693+1208G>T - IntronicSNV - 4/8
10-120465796-C-G CACUL1 c.693+1208G>C - IntronicSNV - 4/8
6-19839415-C-G ID4 c.*15-26C>G - intron_variant - 2/2
16-2296197-A-C ECI1 c.294+663T>G - IntronicSNV - 3/6
18-20758310-A-G CABLES1 c.51-10492A>G - IntronicSNV - 1/9
9-133482006-G-A FUBP3 c.191-3335G>A - IntronicSNV - 2/18