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	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.

rs_ID	Functional Annotation	r²[population]
rs7114573	intron_variant; non_coding_transcript_variant	0.829[CEU]
rs11605776	intron_variant; non_coding_transcript_variant	0.831[CEU]
rs6486120	intron_variant; non_coding_transcript_variant	0.829[CEU]
rs7951393	intron_variant; non_coding_transcript_variant	0.829[CEU]
rs7938307	intron_variant; non_coding_transcript_variant	0.85[CEU]
rs11823635	intron_variant; non_coding_transcript_variant	1.0[CEU]
rs4757145	intron_variant; non_coding_transcript_variant; upstream_gene_variant	0.912[CEU]
rs10741616	intron_variant; non_coding_transcript_variant	0.957[CEU]
rs10832021	intron_variant; non_coding_transcript_variant	0.829[CEU]
rs7396943	intron_variant; non_coding_transcript_variant; upstream_gene_variant	0.914[CEU]
rs6486116	intron_variant; non_coding_transcript_variant	0.829[CEU]
rs9633835	intron_variant; non_coding_transcript_variant	0.912[CEU]
rs4757144	intron_variant; non_coding_transcript_variant; upstream_gene_variant	0.956[CEU]
rs10766077	intron_variant; non_coding_transcript_variant	1.0[CEU]
rs11022762	intron_variant; non_coding_transcript_variant	0.956[CEU]
rs11824092	intron_variant; non_coding_transcript_variant	1.0[CEU]

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