SNP Report

Basic Info

Name	rs131690 dbSNP Ensembl
Location	chr22:23305822 - 23305822(1)
Variant Alleles	G/A
Ancestral Allele	A
Minor Allele	G
Minor Allele Frequence	0.446086
Functional Annotation	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant.
Consequence to Transcript	downstream_gene_variant(ENST00000471452); intron_variant(ENST00000305877, ENST00000359540, ENST00000398512, ENST00000419722); non_coding_transcript_variant(ENST00000419722); upstream_gene_variant(ENST00000436990, ENST00000475025, ENST00000478978)
No. of Studies	2 (Positive: 1; Negative: 1; Trend: 0)
Source	Literature
Overlap with SZ?	NO
Overlap with MDD?	YES

SNP related studies (count: 2)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
Yosifova, A.,2009	A/G		Allelic association: P-value = 0.58 Allelic association: P-value = 0.58	No significant association was observed No significant association was observed	Negative
Hashimoto, R.,2005(a)	A/G		Allelic association: for BP, P-value = 0.0062, OR=1.5; for B...... Allelic association: for BP, P-value = 0.0062, OR=1.5; for BPII, P-value = 0.0036, OR=1.79; genotypic association: for BPII, P-value = 0.022; OR(95%CI)=1.83(1.08-3.19) More...	Significant associations were found in BD. Significant associations were found in BD.	Positive

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
BCR	breakpoint cluster region	22q11	2(1/1/0)

SNPs in LD with rs131690 (count: 3) View in gBrowse (chr22:23303227..23307055 )

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]
rs131693	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant	1.0[CEU]; 1.0[TSI]; 1.0[CHB]; 0.965[CHD]; 0.935[JPT]
rs131682	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant	0.814[JPT]
rs131686	downstream_gene_variant; intron_variant; non_coding_transcript_variant; upstream_gene_variant	1.0[CEU]; 1.0[TSI]; 1.0[CHB]; 0.965[CHD]; 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
Hashimoto, R.,2005(a)	Allelic association:for MDD, P-value > 0.05	No significant associations were found in MDD.	Negative