SNP Report

Basic Info

Name	rs464049 dbSNP Ensembl
Location	chrCHR_HSCHR5_3_CTG1:1404280 - 1404280(-1)
Variant Alleles	A/G
Ancestral Allele	G
Minor Allele	A
Minor Allele Frequence	0.391773
Functional Annotation	intron_variant; upstream_gene_variant.
Consequence to Transcript	intron_variant(ENST00000270349, ENST00000621716); upstream_gene_variant(ENST00000630314)
No. of Studies	2 (Positive: 1; Negative: 1; Trend: 0)
Source	Literature
Overlap with SZ?	YES
Overlap with MDD?	NO

SNP related studies (count: 2)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
Pinsonneault, J. K.,2011			Stanley sample: allele, X² P-value = 0.45, Fisher...... Stanley sample: allele, X² P-value = 0.45, Fisher's exact P-value = 0.54, OR=1.26, 95%CI=0.7-2.3 for BD; X² P-value = 0.88, Fisher's exact P-value = 1OR=0.96 for BD More...	No significant association was observed. No significant association was observed.	Negative
Mick, E., 2008		G	TDT X²(df=1)=5.79, P-value = 0.021, OR (95% CI)=1...... TDT X²(df=1)=5.79, P-value = 0.021, OR (95% CI)=1.33(0.99-1.78) More...	Results indicated nominally positive association for this SN...... Results indicated nominally positive association for this SNP. More...	Positive

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
SLC6A3	solute carrier family 6 (neurotransmitter transporter), member 3	5p15.3	11(5/6/0)

SNPs in LD with rs464049 (count: 4) View in gBrowse (chrCHR_HSCHR5_3_CTG1:1391778..1410913 )

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]
rs420422	intron_variant; downstream_gene_variant	0.961[CEU]; 0.911[TSI]
rs250686	intron_variant; missense_variant; upstream_gene_variant	1.0[CEU]
rs37020	intron_variant; upstream_gene_variant	1.0[CEU]
rs250681	intron_variant; non_coding_transcript_variant	1.0[CEU]; 0.977[TSI]

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

Reference	Statistical Result	Description	Result Category
Pinsonneault, J. K.,2011	Stanley sample:allele, X² P-value = 0.88, Fisher's exact P-value = 1OR=0.96 for SZ	No significant association was observed.	Negative

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