SNP Report

Basic Info

Name	rs2070040 dbSNP Ensembl
Location	chr13:46893491 - 46893491(1)
Variant Alleles	G/A
Ancestral Allele	G
Minor Allele	A
Minor Allele Frequence	0.334265
Functional Annotation	downstream_gene_variant; intron_variant.
Consequence to Transcript	downstream_gene_variant(ENST00000612998); intron_variant(ENST00000378688, ENST00000542664, ENST00000543956)
No. of Studies	1 (Positive: 0; Negative: 1; Trend: 0)
Source	Literature
Overlap with SZ?	NO
Overlap with MDD?	YES

SNP related studies (count: 1)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
Kishi, T.,2009(b)	A/G		chi-square test: 1.total samples: P-value = 0.559(Genotype),...... chi-square test: 1.total samples: P-value = 0.559(Genotype), P-value = 0.273(Allele) in BP 2. male samples: P-value = 0.582(Genotype), P-value = 0.345(Allele) in BP 3. female samples: P-value = 0.786(Genotype), P-value = 0.522(Allele) in BP More...	No significant association was observed No significant association was observed	Negative

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
HTR2A	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	13q14-q21	22(7/15/0)

SNPs in LD with rs2070040 (count: 9) View in gBrowse (chr13:46884739..46929722 )

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]
rs1410660		0.856[JPT]
rs2296973	downstream_gene_variant; intron_variant	0.905[CHB]; 1.0[JPT]
rs2183057		0.853[JPT]
rs2070037	downstream_gene_variant; intron_variant	0.905[CHB]; 0.952[JPT]
rs4942587	intron_variant	0.905[CHB]; 1.0[JPT]
rs1328683	intron_variant	0.905[CHB]; 1.0[JPT]
rs4941573	downstream_gene_variant; intron_variant	0.865[JPT]
rs9534523		0.856[JPT]
rs9534511	downstream_gene_variant; intron_variant	1.0[CHB]; 1.0[JPT]

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

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

Reference	Statistical Result	Description	Result Category
Kishi, T.,2009(b)	chi-square test: 1.total samples:P-value = 0.675(Genotype), P-value = 0.394(Allele) in Mood disorders;P-value = 0.884(Genotype), P-value = 0.684(Allele) in MDD 2. male samples: P-value = 0.339(Genotype), P-value = 0.158(Allele) in Mood disorders;P-value = 0.456(Genotype), P-value = 0.214(Allele) in MDD 3. female samples: P-value = 0.982(Genotype), P-value = 0.851(Allele) in Mood disorders;P-value = 0.8182(Genotype), P-value = 0.526(Allele) in MDD	we did not detect any significant association of HTR2A with MDD or BP in allele/genotype-wise analysis.	Negative