SNP Report

Basic Info

Name	rs646558 dbSNP Ensembl
Location	chr11:113235185 - 113235185(1)
Variant Alleles	C/A
Ancestral Allele	A
Minor Allele	A
Minor Allele Frequence	0.291334
Functional Annotation	downstream_gene_variant; intron_variant; NMD_transcript_variant; non_coding_transcript_variant.
Consequence to Transcript	downstream_gene_variant(ENST00000534046, ENST00000613217); intron_variant(ENST00000316851, ENST00000401611, ENST00000525355, ENST00000526322, ENST00000528590, ENST00000530543, ENST00000531044, ENST00000531817, ENST00000533073, ENST00000611284, ENST00000615112, ENST00000615285, ENST00000618266, ENST00000619839, ENST00000620046, ENST00000621128, ENST00000621518, ENST00000621850); NMD_transcript_variant(ENST00000531817); non_coding_transcript_variant(ENST00000525355, ENST00000611284)
No. of Studies	3 (Positive: 1; Negative: 2; Trend: 0)
Source	Literature
Overlap with SZ?	YES
Overlap with MDD?	YES

SNP related studies (count: 3)

Reference	Allele Change	Statistical Values	Author Comments	Result Category
Yosifova, A.,2009	A/C	Allelic association: P-value = 1 Allelic association: P-value = 1	No significant association was observed No significant association was observed	Negative
Arai, M., 2004	C>A	Fisher's exact test genotypic P-value = 0.01 , allelic P-val...... Fisher's exact test genotypic P-value = 0.01 , allelic P-value = 0.004 More...	This polymorphism displayed a nominally significantly differ...... This polymorphism displayed a nominally significantly different genotypic distribution between patients with bipolar disorder and control subjects. More...	Positive
Atz, M. E., 2007	C/A	Fisher's exact test, allelic P-value = 0.466, OR=0.82 in BD;...... Fisher's exact test, allelic P-value = 0.466, OR=0.82 in BD; Fisher's exact test, allelic P-value = 0.602 in BD&SZ More...	The allelic frequencies for bipolar and control cases were n...... The allelic frequencies for bipolar and control cases were not different; it did not show a suggestion of association with BPD More...	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 rs646558 (count: 0) View in gBrowse (chr11:113235185..113235185 )

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

Reference	Statistical Result	Description	Result Category
Atz, M. E., 2007	Fisher's exact test, allelic P-value = 1 in SZ; Fisher's exact test, allelic P-value = 0.602 in BD&SZ; Heterozygous genotypic association (A/A-C/A): chi-square P-value = 0.01, X²=6.6, OR(95%CI)=0.054 (0.003-1.16); Homozygous genotypic association (C/C-A/A): chi-square P-value = 0.049, X²=3.86, OR(95%CI)=9.57 [0.47-193.92]; Allele positivity [(C/C+C/A)-A/A]: chi-square P-value = 0.027, X²=4.88, OR(95%CI)=0.084 [0.004-1.67] in SZ	The SNP heterozygote and homozygote associations were significant, as well as allele positivity for SZ, showing a suggestion of association.	Positive

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 = 0.51 , allelic P-value = 0.64	For unipolar disorder, none of these polymorphisms displayed nominally significant genotypic or allelic associations with the disease.	Negative