SNP Report

Basic Info

Name	rs686050 dbSNP Ensembl
Location	chr11:113214522 - 113214522(1)
Variant Alleles	C/G
Ancestral Allele	G
Minor Allele	G
Minor Allele Frequence	0.463059
Functional Annotation	intron_variant; non_coding_transcript_variant.
Consequence to Transcript	intron_variant(ENST00000316851, ENST00000401611, ENST00000529356, ENST00000531044, ENST00000611284, ENST00000613217, ENST00000615112, ENST00000615285, ENST00000618266, ENST00000619839, ENST00000620046, ENST00000621128, ENST00000621518, ENST00000621850); non_coding_transcript_variant(ENST00000611284)
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
Arai, M., 2004	G>C		Fisher's exact test genotypic P-value = 0.06 , allelic P-val...... Fisher's exact test genotypic P-value = 0.06 , allelic P-value = 0.04 More...	This polymorphism displayed trend toward genotypic associati...... This polymorphism displayed trend toward genotypic association with bipolar disease. More...	Positive
Yosifova, A.,2009	C/G		Allelic association: P-value = 0.92 Allelic association: P-value = 0.92	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)
NCAM1	neural cell adhesion molecule 1	11q23.2	3(2/1/0)

SNPs in LD with rs686050 (count: 7) View in gBrowse (chr11:113194571..113219458 )

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]
rs965560	intron_variant; non_coding_transcript_variant	0.955[CEU]
rs1943620	intron_variant; non_coding_transcript_variant	0.955[CEU]; 0.908[CHB]; 0.826[JPT]
rs677642	intron_variant; non_coding_transcript_variant	1.0[CEU]; 0.827[CHB]
rs1975259	downstream_gene_variant; intron_variant; non_coding_transcript_variant	0.955[CEU]
rs1943619	downstream_gene_variant; intron_variant; non_coding_transcript_variant	0.957[CEU]
rs2574824	intron_variant; non_coding_transcript_variant	0.911[CEU]
rs2552513	intron_variant; non_coding_transcript_variant	0.956[CEU]

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

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

Reference	Statistical Result	Description	Result Category
Arai, M., 2004	Fisher's exact test genotypic P-value = 0.45 , allelic P-value = 0.48	For unipolar disorder, none of these polymorphisms displayed nominally significant genotypic or allelic associations with the disease.	Negative