SNP Report

Basic Info

Name	rs2267012 dbSNP Ensembl
Location	chr22:23193795 - 23193795(1)
Variant Alleles	G/A
Ancestral Allele	G
Minor Allele	A
Minor Allele Frequence	0.217851
Functional Annotation	intron_variant; non_coding_transcript_variant; upstream_gene_variant.
Consequence to Transcript	intron_variant(ENST00000305877, ENST00000359540, ENST00000398512, ENST00000479188); non_coding_transcript_variant(ENST00000479188); upstream_gene_variant(ENST00000463770, ENST00000487679)
No. of Studies	1 (Positive: 1; Negative: 0; 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
Hashimoto, R.,2005(a)	A/G		Allelic association: for BPII, P-value = 0.0042, OR=1.7; for...... Allelic association: for BPII, P-value = 0.0042, OR=1.7; for MDD, P-value = 0.0097, OR=1.33; for total cases, P-value = 0.0095, OR=1.29; genotypic association: for BPII, P-value = 0.031; OR(95%CI)=1.94(1.10-3.78) 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 rs2267012 (count: 34) View in gBrowse (chr22:23150049..23204713 )

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: 34)

rs_ID	Functional Annotation	r²[population]
rs5759611	downstream_gene_variant; synonymous_variant	0.807[JPT]
rs5759615	downstream_gene_variant; intron_variant	0.807[JPT]
rs4820542	intron_variant; non_coding_transcript_variant	0.851[JPT]
rs5759621	3_prime_UTR_variant; downstream_gene_variant	0.807[JPT]
rs2267010	intron_variant; non_coding_transcript_variant	1.0[CHB]; 1.0[JPT]
rs768513		0.869[CHB]; 0.904[JPT]
rs2267007	downstream_gene_variant; intron_variant	0.807[JPT]
rs2071431	intron_variant; non_coding_transcript_variant; upstream_gene_variant	0.853[JPT]
rs5759612	downstream_gene_variant; missense_variant	0.807[JPT]
rs5759631	downstream_gene_variant; upstream_gene_variant	0.853[JPT]
rs4820541	3_prime_UTR_variant; downstream_gene_variant	0.807[JPT]
rs713617	intron_variant; non_coding_transcript_variant	0.858[JPT]
rs5996483	intron_variant; non_coding_transcript_variant	0.858[JPT]
rs5759608	downstream_gene_variant; intron_variant	0.807[JPT]
rs2267011	intron_variant; non_coding_transcript_variant; upstream_gene_variant	0.854[JPT]
rs9612248	intron_variant; upstream_gene_variant	0.848[JPT]
rs5751603	intron_variant; non_coding_transcript_variant; upstream_gene_variant	0.853[JPT]
rs9612252	downstream_gene_variant; intron_variant	0.802[JPT]
rs2071436	intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	0.853[JPT]
rs737819	3_prime_UTR_variant; downstream_gene_variant	0.807[JPT]
rs2071433	intron_variant; non_coding_transcript_variant	0.858[JPT]
rs9612257		0.858[JPT]
rs2071432	intron_variant; non_coding_transcript_variant	0.826[JPT]
rs5759620	3_prime_UTR_variant; downstream_gene_variant	0.807[JPT]
rs8142746	3_prime_UTR_variant; downstream_gene_variant	0.807[JPT]
rs5751606	intron_variant; non_coding_transcript_variant; upstream_gene_variant	0.858[JPT]
rs11704365	downstream_gene_variant	0.869[CHB]; 0.904[JPT]
rs5759619	3_prime_UTR_variant; downstream_gene_variant	0.807[JPT]
rs2267014	intron_variant; non_coding_transcript_variant	0.875[CHB]; 0.952[JPT]
rs5759614	downstream_gene_variant; intron_variant	0.807[JPT]
rs5751593	3_prime_UTR_variant; downstream_gene_variant	0.807[JPT]
rs2267009	intron_variant; non_coding_transcript_variant	0.853[JPT]
rs713682	intron_variant	0.807[JPT]
rs5759624	downstream_gene_variant	0.807[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 = 0.0097, OR=1.33	Significant associations were found in MDD.	Positive