BDgene

SNP Report

Basic Info
Name rs2278749 dbSNP Ensembl
Location chr11:13376331 - 13376331(1)
Variant Alleles C/T
Ancestral Allele C
Minor Allele T
Minor Allele Frequence 0.124002
Functional Annotation downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant.
Consequence to Transcript downstream_gene_variant(ENST00000497429); intron_variant(ENST00000389707, ENST00000401424, ENST00000403290, ENST00000403482, ENST00000403510, ENST00000472842, ENST00000524392, ENST00000529390); NMD_transcript_variant(ENST00000524392); non_coding_transcript_variant(ENST00000472842, ENST00000529390)
No. of Studies 3 (Positive: 1; Negative: 2; Trend: 0)
Source Literature
Overlap with SZ? YES
Overlap with MDD? YES

SNP related studies (count: 3)
Reference Allele Change Risk Allele Statistical Values Author Comments Result Category
Yosifova, A.,2009 T/C Allelic association: P-value = 0.43 Allelic association: P-value = 0.43 No significant association was observed No significant association was observed Negative
Soria, V.,2010 X2-tests: allele P-value = 0.096, Model Log-addit...... X2-tests: allele P-value = 0.096, Model Log-additive, genotype P-value = 0.044, OR(95%CI)=1.41 (1.01-1.98) More... Significant association was found in BD. Significant association was found in BD. Positive
Mansour, H. A., 2006 C/T TDT P-value = 0.162 in the samples combined, Pittsburgh Tren...... TDT P-value = 0.162 in the samples combined, Pittsburgh Trends test=0.161 for BDI More... The loci tested did not show significant differences between...... The loci tested did not show significant differences between sites in the transmission rate. More... Negative

SNP related genes (count: 1)
Approved Symbol Approved Name Location No. of Studies (Positive/Negative/Trend)
ARNTL aryl hydrocarbon receptor nuclear translocator-like 11p15 7(5/2/0)

SNPs in LD with rs2278749 (count: 44) View in gBrowse (chr11:13375263..13568503 )
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: 44)


Overlap with SZ from cross-disorder studies (count: 1)
Reference Statistical Result Description Result Category
Mansour, H. A., 2006 not analyzed for Pittsburgh SZ/SZA Negative

Overlap with MDD from cross-disorder studies (count: 1)
Reference Statistical Result Description Result Category
Soria, V.,2010 X2-tests:allele P-value > 0.05, genotype P-value > 0.05 in all model No significant association was observed. Negative

Copyright: Bioinformatics Lab, Institute of Psychology, Chinese Academy of Sciences Feedback Acknowledgements
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Last update: March 31, 2016