SNP Report

Basic Info

Name	rs7296288 dbSNP Ensembl
Location	chr12:49086185 - 49086185(1)
Variant Alleles	A/C
Ancestral Allele	C
Minor Allele	C
Minor Allele Frequence	0.496406
Functional Annotation	downstream_gene_variant; upstream_gene_variant.
Consequence to Transcript	downstream_gene_variant(ENST00000266991); upstream_gene_variant(ENST00000553174)
No. of Studies	4 (Positive: 3; Negative: 0; Trend: 1)
Source	Literature
Overlap with SZ?	YES
Overlap with MDD?	NO

SNP related studies (count: 4)

Reference	Allele Change	Statistical Values	Author Comments	Result Category
Sklar, P.,2011	C/A	genome-wide association: allele, OR(95%CI)=(1.20-1.09), P-va...... genome-wide association: allele, OR(95%CI)=(1.20-1.09), P-value(raw)=9.4E-09, P-value(GC)=8.4E-08 for primary analysis More...	Significant association was found . Significant association was found .	Positive
Jiang, Y.,2011		Non-weighted test under H0: P-value(additive)=0.000492, P-va...... Non-weighted test under H0: P-value(additive)=0.000492, P-value(dominant)=0.0000276, P-value(recessive)=0.172; weighted test under H'0: P-value(additive)=0.000205, P-value(dominant)=0.0000096, P-value(recessive)=0.0815; logistic regression: P-value(additive)=0.000191, P-value(dominant)=0.0000149, P-value(recessive)=0.0992 More...	Suggestive association was found. Suggestive association was found.	Trend
Andreassen OA, 2013		Conditional FDR; BD loci given SCZ: P-value=0.0000288, FDR=0...... Conditional FDR; BD loci given SCZ: P-value=0.0000288, FDR=0.20749, FDR=0.02777 for BD and SCZ More...	This SNP is with conditional FDR<0.05 in schizophrenia given...... This SNP is with conditional FDR<0.05 in schizophrenia given association with bipolar disorder after 'pruning'. More...	Positive
Green, E. K.,2012	A/C	BD ImmunoChip:P-value = 0.055,OR = 0.912;ImmunoChip, PGC-BD ...... BD ImmunoChip:P-value = 0.055,OR = 0.912;ImmunoChip, PGC-BD combined data:P-balue = 0.00000000897,OR = 0.902 More...	The SNP showed a significant association with BD. The SNP showed a significant association with BD.	Positive

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
DHH	desert hedgehog	12q13.1	Mapped by Literature SNP

SNPs in LD with rs7296288 (count: 3) View in gBrowse (chr12:49070666..49086185 )

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: 3)

rs_ID	Functional Annotation	r²[population]
rs7969091	upstream_gene_variant	0.831[TSI]
rs6580698	downstream_gene_variant	0.849[TSI]
rs6580699	downstream_gene_variant	0.851[TSI]

Overlap with SZ from cross-disorder studies (count: 1)

Reference	Statistical Result	Description	Result Category
Andreassen OA, 2013	Conditional FDR; BD loci given SCZ: FDR=0.02777 for BD and SCZ	This SNP is with conditional FDR<0.05 in schizophrenia given association with bipolar disorder after 'pruning'.	Positive

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