SNP Report

Basic Info

Name	rs723672 dbSNP Ensembl
Location	chr12:2052395 - 2052395(1)
Variant Alleles	C/T
Ancestral Allele	T
Minor Allele	C
Minor Allele Frequence	0.370407
Functional Annotation	downstream_gene_variant; intron_variant; upstream_gene_variant.
Consequence to Transcript	downstream_gene_variant(ENST00000541871); intron_variant(ENST00000543114); upstream_gene_variant(ENST00000327702, ENST00000335762, ENST00000344100, ENST00000347598, ENST00000399591, ENST00000399595, ENST00000399597, ENST00000399601, ENST00000399603, ENST00000399606, ENST00000399617, ENST00000399621, ENST00000399629, ENST00000399634, ENST00000399637, ENST00000399638, ENST00000399641, ENST00000399644, ENST00000399649, ENST00000399655, ENST00000402845, ENST00000406454, ENST00000480911, LRG_334t1, LRG_334t2, LRG_334t3, LRG_334t4)
No. of Studies	2 (Positive: 0; Negative: 2; 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
Zhang X, 2013	C/T		genotypic P-value=0.30, X²=2.38, allelic P-value=...... genotypic P-value=0.30, X²=2.38, allelic P-value=0.14, OR(95%CI)=1.18(0.95-1.48) More...	No significant association was found. No significant association was found.	Negative
Fiorentino A., 2014	C/T		eurMLP=0.27 eurMLP=0.27	No significant association was observed. No significant association was observed.	Negative

SNP related genes (count: 2)

Approved Symbol	Approved Name	Location	No. of Studies (Positive/Negative/Trend)
CACNA1C	calcium channel, voltage-dependent, L type, alpha 1C subunit	12p13.3	20(17/3/0)
CACNA1C-IT2	CACNA1C intronic transcript 2	12p13.33	Mapped by Literature SNP

SNPs in LD with rs723672 (count: 3) View in gBrowse (chr12:2040658..2052395 )

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]
rs2429148	intron_variant	0.829[CEU]; 0.938[CHB]; 0.836[JPT]
rs765125	intron_variant; upstream_gene_variant	0.847[CEU]; 0.89[TSI]; 0.938[CHB]; 1.0[CHD]; 0.935[JPT]
rs2429150	intron_variant; upstream_gene_variant	0.847[CEU]; 0.938[CHB]; 0.935[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
Zhang X, 2013	genotypic P-value=0.56, X²=1.16, allelic P-value=0.56, OR(95%CI)=1.05(0.88-1.26)	Neither allele nor genotype frequencies of the three SNPs were significantly different between MDD patients and control subjects.	Negative