SNP Report

Basic Info

Name	rs3761418 dbSNP Ensembl
Location	chr22:23178907 - 23178907(1)
Variant Alleles	A/G
Ancestral Allele	G
Minor Allele	G
Minor Allele Frequence	0.298922
Functional Annotation	downstream_gene_variant; upstream_gene_variant.
Consequence to Transcript	downstream_gene_variant(ENST00000412037); upstream_gene_variant(ENST00000305877, ENST00000359540, ENST00000398512, ENST00000479188)
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 = 0.38 Allelic association: P-value = 0.38	No significant association was observed No significant association was observed	Negative
Hashimoto, R.,2005(a)	A/G		Allelic association: for BPII, P-value = 0.0066, OR=1.66; fo...... Allelic association: for BPII, P-value = 0.0066, OR=1.66; for MDD, P-value = 0.012, OR=1.32; for total cases, P-value = 0.014, OR=1.29; genotypic association: for BPII, P-value = 0.017; OR(95%CI)=1.99(1.16-3.84) More...	Significant associations were found in BD. Significant associations were found in BD.	Positive

SNP related genes (count: 2)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
BCRP8	breakpoint cluster region pseudogene 8	22q11.23	Mapped by Literature SNP
BCR	breakpoint cluster region	22q11	2(1/1/0)

SNPs in LD with rs3761418 (count: 96) View in gBrowse (chr22:23080704..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: 96)

rs_ID	Functional Annotation	r²[population]
rs916583	downstream_gene_variant; intron_variant	0.843[JPT]
rs5759613	downstream_gene_variant; intron_variant	0.901[CHB]; 0.946[JPT]
rs916584	downstream_gene_variant; intron_variant	0.843[JPT]
rs4820542	intron_variant; non_coding_transcript_variant	1.0[CEU]; 1.0[TSI]; 0.847[CHB]; 0.926[CHD]; 1.0[JPT]
rs5759619	3_prime_UTR_variant; downstream_gene_variant	0.901[CHB]; 0.901[CHD]; 0.946[JPT]
rs5759608	downstream_gene_variant; intron_variant	0.901[CHB]; 0.878[CHD]; 0.946[JPT]
rs2266997	intron_variant	0.838[CEU]; 0.838[JPT]
rs5751606	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1.0[CEU]; 0.847[CHB]; 1.0[JPT]
rs2071432	intron_variant; non_coding_transcript_variant	0.8[CEU]; 0.82[CHB]; 1.0[JPT]
rs3788343	intron_variant; non_coding_transcript_variant	0.838[CEU]
rs4820536	intron_variant; non_coding_transcript_variant	0.876[CEU]
rs5996483	intron_variant; non_coding_transcript_variant	1.0[CEU]; 0.847[CHB]; 1.0[JPT]
rs5751589	downstream_gene_variant; intron_variant; upstream_gene_variant	0.843[JPT]
rs1989777	intron_variant; non_coding_transcript_variant	0.838[CEU]
rs2157710	intron_variant	0.802[CHB]; 0.843[JPT]
rs4820537	downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	0.801[CHB]; 0.843[JPT]
rs1858746	intron_variant; non_coding_transcript_variant	0.838[CEU]
rs2267006	intron_variant; upstream_gene_variant	0.843[JPT]
rs1051875	3_prime_UTR_variant; downstream_gene_variant; intron_variant	0.841[JPT]
rs2071433	intron_variant; non_coding_transcript_variant	1.0[CEU]; 0.847[CHB]; 1.0[JPT]
rs4822362	intron_variant; upstream_gene_variant	0.843[JPT]
rs2301554	5_prime_UTR_variant; intron_variant; upstream_gene_variant	0.815[CHB]; 0.843[JPT]
rs756633	downstream_gene_variant; intron_variant	0.901[CHB]; 0.946[JPT]
rs5759598	intron_variant; upstream_gene_variant	0.843[JPT]
rs3827315	intron_variant; non_coding_transcript_variant	0.838[CEU]
rs5759607	intron_variant	0.958[CEU]; 0.949[CHB]; 0.946[JPT]
rs1807460	3_prime_UTR_variant; downstream_gene_variant	0.815[CHB]
rs2330336	intron_variant	0.876[CEU]; 0.84[JPT]
rs2071436	intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	1.0[CEU]; 0.859[TSI]; 0.847[CHB]; 0.951[CHD]; 1.0[JPT]
rs2267010	intron_variant; non_coding_transcript_variant	0.853[JPT]
rs6003502	intron_variant; non_coding_transcript_variant	0.838[CEU]; 0.84[JPT]
rs5759620	3_prime_UTR_variant; downstream_gene_variant	0.901[CHB]; 0.878[CHD]; 0.946[JPT]
rs2267000	intron_variant	0.802[CHB]
rs713682	intron_variant	0.901[CHB]; 0.878[CHD]; 0.946[JPT]
rs5759614	downstream_gene_variant; intron_variant	0.857[CHB]; 0.878[CHD]; 0.946[JPT]
rs2266998	intron_variant	0.838[CEU]
rs8142746	3_prime_UTR_variant; downstream_gene_variant	0.901[CHB]; 0.854[CHD]; 0.946[JPT]
rs5759612	downstream_gene_variant; missense_variant	0.901[CHB]; 0.876[CHD]; 0.946[JPT]
rs4822354	intron_variant; non_coding_transcript_variant	0.838[CEU]
rs5759631	downstream_gene_variant; upstream_gene_variant	1.0[CEU]; 0.965[TSI]; 1.0[CHB]; 0.951[CHD]; 1.0[JPT]
rs916585	downstream_gene_variant; intron_variant	0.805[JPT]
rs2266995	intron_variant; non_coding_transcript_variant	0.838[CEU]
rs2246716	downstream_gene_variant; intron_variant	0.948[CHB]
rs4820541	3_prime_UTR_variant; downstream_gene_variant	0.958[CEU]; 0.93[TSI]; 1.0[CHB]; 0.903[CHD]; 0.946[JPT]
rs2283802	intron_variant	0.916[CEU]; 0.84[JPT]
rs5759600	intron_variant; upstream_gene_variant	0.815[CHB]; 0.843[JPT]
rs2330338	intron_variant	0.838[CEU]
rs1805058	downstream_gene_variant; intron_variant; synonymous_variant	0.876[CEU]; 0.84[JPT]
rs4822360	missense_variant; synonymous_variant; upstream_gene_variant	0.843[JPT]
rs4822369		1.0[CEU]; 1.0[CHB]; 0.946[JPT]
rs5759621	3_prime_UTR_variant; downstream_gene_variant	0.901[CHB]; 0.878[CHD]; 0.946[JPT]
rs9612252	downstream_gene_variant; intron_variant	0.901[CHB]; 0.877[CHD]; 0.945[JPT]
rs6519411	intron_variant; non_coding_transcript_variant	0.838[CEU]
rs5751593	3_prime_UTR_variant; downstream_gene_variant	0.901[CHB]; 0.878[CHD]; 0.946[JPT]
rs5759611	downstream_gene_variant; synonymous_variant	0.958[CEU]; 0.93[TSI]; 1.0[CHB]; 0.901[CHD]; 0.946[JPT]
rs2283804	intron_variant; upstream_gene_variant	0.843[JPT]
rs2267011	intron_variant; non_coding_transcript_variant; upstream_gene_variant	0.847[CHB]; 1.0[JPT]
rs737818	3_prime_UTR_variant; downstream_gene_variant	0.857[CHB]; 0.878[CHD]; 0.943[JPT]
rs2071431	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1.0[CEU]; 0.965[TSI]; 0.847[CHB]; 0.951[CHD]; 1.0[JPT]
rs4822361	intron_variant; upstream_gene_variant	0.843[JPT]
rs9612257		0.843[JPT]
rs5759593	downstream_gene_variant; intron_variant; upstream_gene_variant	0.843[JPT]
rs5759615	downstream_gene_variant; intron_variant	0.901[CHB]; 0.878[CHD]; 0.946[JPT]
rs3788348	downstream_gene_variant; intron_variant	0.843[JPT]
rs5751578	intron_variant; non_coding_transcript_variant	0.834[CEU]
rs5751579	intron_variant; non_coding_transcript_variant	0.834[CEU]
rs3810614	intron_variant; non_coding_transcript_variant	0.838[CEU]
rs768514		0.957[CEU]; 1.0[CHB]; 0.946[JPT]
rs6003518	downstream_gene_variant; intron_variant	0.843[JPT]
rs13054985	intron_variant	0.835[JPT]
rs2267014	intron_variant; non_coding_transcript_variant	0.81[JPT]
rs2266999	intron_variant	0.876[CEU]
rs4822359	downstream_gene_variant; intron_variant; non_coding_transcript_exon_variant; non_coding_transcript_variant	0.843[JPT]
rs5751587	downstream_gene_variant; intron_variant	0.811[JPT]
rs5751596	3_prime_UTR_variant; downstream_gene_variant	0.901[CHB]; 0.946[JPT]
rs2267004	intron_variant; upstream_gene_variant	0.843[JPT]
rs737819	3_prime_UTR_variant; downstream_gene_variant	0.901[CHB]; 0.901[CHD]; 0.946[JPT]
rs5759604	intron_variant	1.0[CHB]; 0.932[JPT]
rs2283803	intron_variant	0.802[CHB]; 0.843[JPT]
rs2249692	intron_variant; upstream_gene_variant	0.901[CHB]; 0.893[JPT]
rs5759603	intron_variant	0.843[JPT]
rs713617	intron_variant; non_coding_transcript_variant	1.0[CEU]; 0.847[CHB]; 1.0[JPT]
rs2301555	intron_variant	0.901[CHB]
rs885964	intron_variant; upstream_gene_variant	0.843[JPT]
rs5751603	intron_variant; non_coding_transcript_variant; upstream_gene_variant	1.0[CEU]; 1.0[TSI]; 0.896[CHB]; 0.951[CHD]; 1.0[JPT]
rs739362	intron_variant	0.838[CEU]; 0.835[JPT]
rs4822357	downstream_gene_variant; intron_variant	0.843[JPT]
rs2330361		0.901[CHB]; 0.946[JPT]
rs874138	downstream_gene_variant; intron_variant	0.876[CEU]; 0.84[JPT]
rs12167308		0.956[CEU]; 1.0[CHB]; 0.946[JPT]
rs5759624	downstream_gene_variant	0.958[CEU]; 0.965[TSI]; 1.0[CHB]; 0.903[CHD]; 0.946[JPT]
rs2267009	intron_variant; non_coding_transcript_variant	1.0[CEU]; 1.0[TSI]; 0.847[CHB]; 0.951[CHD]; 1.0[JPT]
rs4820539	downstream_gene_variant; intron_variant; upstream_gene_variant	0.843[JPT]
rs9612237	downstream_gene_variant; intron_variant	0.834[JPT]
rs2267007	downstream_gene_variant; intron_variant	0.901[CHB]; 0.878[CHD]; 0.946[JPT]
rs3788347	downstream_gene_variant; intron_variant	0.841[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 = 0.012, OR=1.32	Significant associations were found in MDD.	Positive