SNP Report

Basic Info

Name	rs12496634 dbSNP Ensembl
Location	chr3:52675243 - 52675243(1)
Variant Alleles	A/C
Ancestral Allele	A
Minor Allele	C
Minor Allele Frequence	0.31889
Functional Annotation	downstream_gene_variant; intron_variant; NMD_transcript_variant.
Consequence to Transcript	downstream_gene_variant(ENST00000424867, ENST00000439181, ENST00000458294); intron_variant(ENST00000296302, ENST00000337303, ENST00000356770, ENST00000394830, ENST00000409057, ENST00000409114, ENST00000409767, ENST00000410007, ENST00000412587, ENST00000420148, ENST00000423351, ENST00000431678, ENST00000446103, ENST00000449505, ENST00000450271); NMD_transcript_variant(ENST00000412587)
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
Major Depressive Disorder Working Group of the Psychiatric, G. C., 2013			P-value=0.0000001509, OR=1.143 for BIP, P-value=0.0000000343...... P-value=0.0000001509, OR=1.143 for BIP, P-value=0.00000003439, OR=1.098 for combined sample More...	In the combined analysis of these 819 SNPs, 15 exceeded geno...... In the combined analysis of these 819 SNPs, 15 exceeded genome-wide significance and all were in a 248 kb interval of high LD on 3p21.12. More...	Positive

SNP related genes (count: 1)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
PBRM1	polybromo 1	3p21	5(4/0/1)

SNPs in LD with rs12496634 (count: 0) View in gBrowse (chr3:52675243..52675243 )

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

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

Reference	Statistical Result	Description	Result Category
Major Depressive Disorder Working Group of the Psychiatric, G. C., 2013	P-value=0.007207, OR=1.063 for MDD, P-value=0.00000003439, OR=1.098 for combined sample	In the combined analysis of these 819 SNPs, 15 exceeded genome-wide significance and all were in a 248 kb interval of high LD on 3p21.12.	Positive