SNP Report

Basic Info

Name	rs131702 dbSNP Ensembl
Location	chr22:23308800 - 23308800(1)
Variant Alleles	G/T
Ancestral Allele	G
Minor Allele	T
Minor Allele Frequence	0.333666
Functional Annotation	intron_variant; non_coding_transcript_variant; upstream_gene_variant.
Consequence to Transcript	intron_variant(ENST00000305877, ENST00000359540, ENST00000398512, ENST00000419722, ENST00000475025, ENST00000478978); non_coding_transcript_variant(ENST00000419722, ENST00000475025, ENST00000478978); upstream_gene_variant(ENST00000436990, ENST00000458056)
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
Hashimoto, R.,2005(a)	T/G		Allelic association: for BP, P-value = 0.0026, OR=1.49; for ...... Allelic association: for BP, P-value = 0.0026, OR=1.49; for BPI, P-value = 0.026, OR=1.43; for BPII, P-value = 0.013, OR=1.59; genotypic association: for BPII, P-value = 0.018; OR(95%CI)=2.07(1.20-4.02) More...	Significant associations were found in BD. Significant associations were found in BD.	Positive
Yosifova, A.,2009	G/T		Allelic association: P-value = 0.89 Allelic association: P-value = 0.89	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)
BCR	breakpoint cluster region	22q11	2(1/1/0)

SNPs in LD with rs131702 (count: 3) View in gBrowse (chr22:23308800..23315820 )

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]
rs180817	3_prime_UTR_variant; downstream_gene_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	0.904[CHB]; 0.95[JPT]
rs2267028	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1.0[CEU]
rs180807	downstream_gene_variant; intron_variant; non_coding_transcript_variant	0.905[CHB]; 0.901[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