SNP Report

Basic Info

Name	rs215976 dbSNP Ensembl
Location	chr12:2585472 - 2585472(1)
Variant Alleles	C/T
Ancestral Allele	C
Minor Allele	T
Minor Allele Frequence	0.145567
Functional Annotation	synonymous_variant.
Consequence to Transcript	synonymous_variant(ENST00000327702, ENST00000335762, ENST00000344100, ENST00000347598, ENST00000399591, ENST00000399595, ENST00000399597, ENST00000399601, ENST00000399603, ENST00000399606, ENST00000399617, ENST00000399621, ENST00000399629, ENST00000399634, ENST00000399637, ENST00000399638, ENST00000399641, ENST00000399644, ENST00000399649, ENST00000399655, ENST00000402845, ENST00000406454, ENST00000465278, ENST00000480911, LRG_334t1, LRG_334t2, LRG_334t3, LRG_334t4)
No. of Studies	1 (Positive: 0; Negative: 1; 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
Zhang X, 2013	C/T		genotypic P-value=0.44, X²=1.63, allelic P-value=...... genotypic P-value=0.44, X²=1.63, allelic P-value=0.80, OR(95%CI)=0.97(0.79-1.20) More...	No significant association was found. No significant association was found.	Negative

SNP related genes (count: 1)

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)

SNPs in LD with rs215976 (count: 6) View in gBrowse (chr12:2585472..2606134 )

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]
rs215990	intron_variant; non_coding_transcript_variant; upstream_gene_variant	0.834[CHD]
rs215977	intron_variant	0.946[CHB]; 0.807[JPT]
rs215989	intron_variant; non_coding_transcript_variant; upstream_gene_variant	0.834[CHD]
rs215984	downstream_gene_variant; intron_variant	0.889[CHB]; 0.945[CHD]
rs215988	intron_variant; non_coding_transcript_variant; upstream_gene_variant	0.889[CHB]
rs215981	3_prime_UTR_variant; intron_variant	0.889[CHB]; 0.92[CHD]

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=0.89, X²=0.23, allelic P-value=0.98, OR(95%CI)=0.98(0.83-1.16)	Neither allele nor genotype frequencies of the three SNPs were significantly different between MDD patients and control subjects.	Negative