BDgene

SNP Report

Basic Info
Name rs2498804 dbSNP Ensembl
Location chr14:104766758 - 104766758(1)
Variant Alleles C/A
Ancestral Allele A
Minor Allele A
Minor Allele Frequence 0.430511
Functional Annotation downstream_gene_variant; intron_variant; NMD_transcript_variant; upstream_gene_variant.
Consequence to Transcript downstream_gene_variant(ENST00000349310, ENST00000402615, ENST00000407796, ENST00000544168, ENST00000553506, ENST00000554192, ENST00000554581, ENST00000554585, ENST00000554848, ENST00000555458, ENST00000555528, ENST00000557552, ENST00000610370); intron_variant(ENST00000553819); NMD_transcript_variant(ENST00000553819); upstream_gene_variant(ENST00000557223)
No. of Studies 2 (Positive: 2; Negative: 0; 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 G/T Association analysis: chi square=10.1; df=1; P-value = 0.001...... Association analysis: chi square=10.1; df=1; P-value = 0.001; P-value(adjusted)=0.008; OR(95%CI)=1.82(1.2-2.6) More... Significant association was observed in BD. Significant association was observed in BD. Positive
Karege, F.,2010 G/T single-locus analysis: z=1.58; P-value = 0.114 single-locus analysis: z=1.58; P-value = 0.114 Significant association was found in BD. Significant association was found in BD. Positive

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 rs2498804 (count: 7) View in gBrowse (chr14:104737341..104776494 )
The LD data used here is based on HapMap rel#27. LD SNP pairs were selected with a threshold r2<=0.8.

Literature-origin SNPs (count: 0)

LD-proxies (count: 7)


Overlap with SZ from cross-disorder studies (count: 1)
Reference Statistical Result Description Result Category
Karege, F.,2010 single-locus analysis:z=2.47;P-value = 0.013 Significant association was found. Positive

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