PMID: 22863191

Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia.

American journal of human genetics
AC Need, JP McEvoy, M Gennarelli, EL Heinzen, D Ge, JM Maia, KV Shianna, M He, ET Cirulli, CE Gumbs, Q Zhao, CR Campbell, L Hong, P Rosenquist, A Putkonen, T Hallikainen, E Repo-Tiihonen, J Tiihonen, DL Levy, HY Meltzer, DB Goldstein

21 variants were identified in this publication

Variant ID Gene cDNA Protein Consequence Exon Intron
7-82581772-C-G PCLO c.8497G>C p.Glu2833Gln Missense 5/20 -
11-112050168-C-T BCO2 c.154C>T p.Arg52* Nonsense 2/12 -
7-87053265-C-A ABCB4 c.2168G>T p.Gly723Val Missense 17/28 -
15-44092126-T-C SERINC4 c.59A>G p.His20Arg Missense 1/12 -
1-55518007-C-T PCSK9 c.580C>T p.Arg194Trp Missense 4/12 -
10-128148056-T-C C10orf90 c.1720-270A>G - IntronicSNV - 5/8
7-88965958-C-A ZNF804B c.3662C>A p.Ala1221Asp Missense 4/4 -
7-65440055-G-A GUSB c.916C>T p.Gln306* Nonsense 6/12 -
20-34761758-A-G EPB41L1 c.59A>G p.Gln20Arg Missense 2/22 -
3-112969629-CGG-TGT BOC c.325_327delCGGinsTGT p.Arg109Cys Missense 4/20 -
17-7829413-C-T KCNAB3 c.413G>A p.Arg138Lys Missense 5/14 -
3-112969629-C-T BOC c.325C>T p.Arg109Trp Missense 4/20 -
21-45815372-G-T TRPM2 c.1870G>T p.Asp624Tyr Missense 12/32 -
7-82583929-C-T PCLO c.6340G>A p.Ala2114Thr Missense 5/20 -
16-1143723-G-C C1QTNF8 c.537C>G p.Tyr179* Nonsense 4/5 -
17-7829031-G-A KCNAB3 c.508C>T p.Arg170* Nonsense 7/14 -
12-13061473-G-A GPRC5A c.290G>A p.Arg97His Missense 2/4 -
2-238485934-G-A RAB17 c.401C>T p.Thr134Met Missense 4/6 -
13-33635098-C-T KL c.1882C>T p.Arg628Cys Missense 4/5 -
3-112998770-G-A BOC c.2120G>A p.Arg707His Missense 13/20 -
16-31050920-G-A STX4 c.761G>A p.Arg254His Missense 9/11 -