BDgene

SNP Report

Basic Info
Name rs2494732 dbSNP Ensembl
Location chr14:104772855 - 104772855(1)
Variant Alleles T/C
Ancestral Allele C
Minor Allele T
Minor Allele Frequence 0.425919
Functional Annotation downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant.
Consequence to Transcript downstream_gene_variant(ENST00000553819, ENST00000554826, ENST00000555380, ENST00000555926, ENST00000556836, ENST00000557223); intron_variant(ENST00000349310, ENST00000402615, ENST00000407796, ENST00000544168, ENST00000553506, ENST00000554192, ENST00000554581, ENST00000554585, ENST00000554848, ENST00000555458, ENST00000555528, ENST00000557552, ENST00000610370, LRG_721t1, LRG_721t2); NMD_transcript_variant(ENST00000554585); non_coding_transcript_variant(ENST00000544168, ENST00000553506, ENST00000557552, ENST00000610370)
No. of Studies 2 (Positive: 1; Negative: 1; Trend: 0)
Source Literature
Overlap with SZ? YES
Overlap with MDD? NO

SNP related studies (count: 2)
Reference Allele Change Risk Allele Statistical Values Author Comments Result Category
Karege, F.,2012 A/G Association analysis: chi square=9.40; df=1; P-value = 0.002...... Association analysis: chi square=9.40; df=1; P-value = 0.002; P-value(adjusted)=0.01; OR(95%CI)=1.63(1.2-2.2) More... Significant association was observed in BD. Significant association was observed in BD. Positive
Karege, F.,2010 A/G single-locus analysis: z=2.29; P-value = 0.022 single-locus analysis: z=2.29; P-value = 0.022 No significant association was observed in BD. No significant association was observed in BD. Negative

SNP related genes (count: 2)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
SIVA1 SIVA1, apoptosis-inducing factor 14q32.33 1(0/1/0)
AKT1 v-akt murine thymoma viral oncogene homolog 1 14q32.33 3(3/0/0)

SNPs in LD with rs2494732 (count: 0) View in gBrowse (chr14:104772855..104772855 )

Overlap with SZ from cross-disorder studies (count: 2)
Reference Statistical Result Description Result Category
Karege, F.,2012 Association analysis:chi square=4.90;df=1;P-value = 0.02;P-value(adjusted)>0.05;OR(95%CI)=1.57(1.0-2.3) No significant association was observed in SZ. Negative
Karege, F.,2010 single-locus analysis:z=1.73;P-value = 0.083 No significant association was observed. Negative

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