BDgene

SNP Report

Basic Info
Name rs1982350 dbSNP Ensembl
Location chr11:13328584 - 13328584(1)
Variant Alleles A/G
Ancestral Allele A
Minor Allele A
Minor Allele Frequence 0.499201
Functional Annotation intron_variant; non_coding_transcript_variant.
Consequence to Transcript intron_variant(ENST00000389707, ENST00000401424, ENST00000403290, ENST00000403510, ENST00000480685, ENST00000482049, ENST00000527998, ENST00000529050, ENST00000529388, ENST00000529825, ENST00000530357, ENST00000531665, ENST00000533520, ENST00000534544); non_coding_transcript_variant(ENST00000480685)
No. of Studies 3 (Positive: 2; Negative: 1; 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
Soria, V.,2010 X2-tests: allele P-value = 0.354, Model Recessive...... X2-tests: allele P-value = 0.354, Model Recessive, genotype P-value = 0.05, OR(95%CI)=1.76 (1.01-3.07) More... Significant association was found in BD. Significant association was found in BD. Positive
Yosifova, A.,2009 G/A Allelic association: P-value = 0.12 Allelic association: P-value = 0.12 No significant association was observed No significant association was observed Negative
Mansour, H. A., 2006 T/C TDT P-value = 0.162 in the samples combined, Pittsburgh Tren...... TDT P-value = 0.162 in the samples combined, Pittsburgh Trends test=0.005 for BDI More... For the contrasts of genotype distributions for individuals ...... For the contrasts of genotype distributions for individuals from the Pittsburgh sample diagnosed with BD1 vs. the population in general, significant differences were detected. 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 rs1982350 (count: 16) View in gBrowse (chr11:13296884..13328584 )
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: 16)


Overlap with SZ from cross-disorder studies (count: 1)
Reference Statistical Result Description Result Category
Mansour, H. A., 2006 TDT P-value = 0.561, Trends test=0.255 for Pittsburgh SZ/SZA; case-control P-value = 0.028, X2=7.137, df=2 when contrasting genotype distributions Contrasting genotype distributions in cases with the population-based sample did not reveal any significant differences by the trend test, although the genotype distribution for ARNTL rs1982350 was noted to be significantly different. Positive

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