BDgene

SNP Report

Basic Info
Name rs3918346 dbSNP Ensembl
Location chr12:108888108 - 108888108(1)
Variant Alleles G/A
Ancestral Allele A
Minor Allele A
Minor Allele Frequence 0.430711
Functional Annotation downstream_gene_variant; intron_variant; NMD_transcript_variant.
Consequence to Transcript downstream_gene_variant(ENST00000548052); intron_variant(ENST00000228476, ENST00000547122, ENST00000547166, ENST00000547768, ENST00000549215, ENST00000551281); NMD_transcript_variant(ENST00000547122, ENST00000549215)
No. of Studies 3 (Positive: 0; Negative: 3; Trend: 0)
Source Literature
Overlap with SZ? YES
Overlap with MDD? NO

SNP related studies (count: 3)
Reference Allele Change Risk Allele Statistical Values Author Comments Result Category
Prata, D., 2008 data not shown data not shown Analysis of each SNP individually showed no significant asso...... Analysis of each SNP individually showed no significant association. More... Negative
Papagni, S. A.,2011 C/T Diagnosisxgenotype interaction: in the left precuneus (p>0.0...... Diagnosisxgenotype interaction: in the left precuneus (p>0.05).In the right posterior cingulate gyrus (p>0.05). More... There were no diagnostic group×genotype interactions which ...... There were no diagnostic group×genotype interactions which involved the group of bipolar patients. More... Negative
Bass, N. J.,2009 C/T chi-squared tests: for BP, allele, P-value > 0.05 chi-squared tests: for BP, allele, P-value > 0.05 No significant association was observed. No significant association was observed. Negative

SNP related genes (count: 2)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
DAOA D-amino acid oxidase activator 13q33.2 21(13/7/1)
DAO D-amino-acid oxidase 12q24.11 5(1/4/0)

SNPs in LD with rs3918346 (count: 0) View in gBrowse (chr12:108888108..108888108 )

Overlap with SZ from cross-disorder studies (count: 2)
Reference Statistical Result Description Result Category
Bass, N. J.,2009 chi-squared tests:for SCZ, allele, X2(1 d.f.)=0.976, P-value = 0.323 No significant association was observed. Negative
Papagni, S. A.,2011 Diagnosisxgenotype interaction:in the left precuneus (Z-score=4.79, p=0.004 after FWE correction), which also expressed deactivation during generation relative to baseline across different diagnostic and genotypic groups.Exploration of the parameter estimates revealed that, in this region, deactivation during generation relative to baseline was less pronounced in schizophrenic patients with one or two copies of the T allele than those without it (Z-score=4.55, p=0.012 after FWE correction); in contrast the opposite trend was expressed amongst healthy volunteers (Zscore= 2.77, p<0.01 uncorrected)In the right posterior cingulate gyrus (Z-score=4.42, p=0.021 after FWE). In this region, there was activation during generation in patients with schizophrenia who had at least one copy of the T allele while there was deactivation in those without it (Z-score=5.11, p=0.001 after FWE) This revealed two regions which expressed a significant diagnosis×genotype interaction at p<0.05 after FEW correction for multiple comparisons. Positive

Overlap with MDD from cross-disorder studies (count: 0)