PMID: 20616560

Genetic differences between five European populations.

Human heredity
V Moskvina, M Smith, D Ivanov, D Blackwood, D StClair, C Hultman, D Toncheva, M Gill, A Corvin, C O'Dushlaine, DW Morris, NR Wray, P Sullivan, C Pato, MT Pato, P Sklar, S Purcell, P Holmans, MC O'Donovan, MJ Owen, G Kirov,
2010

10 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
15-28344238-A-G OCA2 c.-22+132T>C - intron_variant - 1/23
15-28530182-C-A HERC2 c.323-4749G>T - IntronicSNV - 4/92
1-8663821-G-A RERE c.522+10799C>T - IntronicSNV - 4/22
20-33867697-A-G EIF6 c.546+48T>C - IntronicSNV - 5/6
11-71169547-G-C NADSYN1 c.220G>C p.Val74Leu Missense 3/21 -
11-71169547-G-A NADSYN1 c.220G>A p.Val74Met Missense 3/21 -
15-28530182-C-T HERC2 c.323-4749G>A - IntronicSNV - 4/92
15-28443658-G-T HERC2 c.7886-9C>A - IntronicSNV - 49/92
6-31856070-G-A EHMT2 c.1510-17C>T - IntronicSNV - 12/27
4-38894380-A-G FAM114A1 c.436+929A>G - IntronicSNV - 4/14