BDgene

SNP Report

Basic Info
Name rs2279287 dbSNP Ensembl
Location chr11:13276938 - 13276938(1)
Variant Alleles T/C
Ancestral Allele C
Minor Allele T
Minor Allele Frequence 0.425519
Functional Annotation 5_prime_UTR_variant; upstream_gene_variant.
Consequence to Transcript 5_prime_UTR_variant(ENST00000529050, ENST00000534544); upstream_gene_variant(ENST00000389707, ENST00000401424, ENST00000403290, ENST00000403510, ENST00000480685, ENST00000482049, ENST00000527998, ENST00000529388, ENST00000529825, ENST00000530357, ENST00000533520)
No. of Studies 2 (Positive: 1; Negative: 1; Trend: 0)
Source Literature
Overlap with SZ? YES
Overlap with MDD? YES

SNP related studies (count: 2)
Reference Allele Change Risk Allele Statistical Values Author Comments Result Category
Soria, V.,2010 X2-tests: allele P-value > 0.05, genotype P-value...... X2-tests: allele P-value > 0.05, genotype P-value > 0.05 in all model More... No significant association was observed in BD. No significant association was observed in BD. Negative
Mansour, H. A., 2006 A/G TDT P-value = 0.322, X2=3.92, df=1 in the samples...... TDT P-value = 0.322, X2=3.92, df=1 in the samples combined, Pittsburgh Trends test=0.056 for BDI More... We observed significant transmission bias when we analyzed t...... We observed significant transmission bias when we analyzed transmission distortion of the bipolar samples jointly More... Positive

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 rs2279287 (count: 38) View in gBrowse (chr11:13248001..13302983 )
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: 38)


Overlap with SZ from cross-disorder studies (count: 1)
Reference Statistical Result Description Result Category
Mansour, H. A., 2006 TDT P-value = 0.348, Trends test=0.173 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 = 0.178, Model Dominant, genotype P-value = 0.022, OR(95%CI)=0.71 (0.53-0.95) Significant association was found. Positive