SNP Report

Basic Info

Name	rs2283291 dbSNP Ensembl
Location	chr12:2228294 - 2228294(1)
Variant Alleles	G/A
Ancestral Allele	A
Minor Allele	G
Minor Allele Frequence	0.496406
Functional Annotation	intron_variant; upstream_gene_variant.
Consequence to Transcript	intron_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); upstream_gene_variant(ENST00000544415)
No. of Studies	1 (Positive: 0; Negative: 1; Trend: 0)
Source	Literature
Overlap with SZ?	NO
Overlap with MDD?	NO

SNP related studies (count: 1)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
Fiorentino A., 2014	G/A		eurMLP=1.37 eurMLP=1.37	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-AS4	CACNA1C antisense RNA 4	12p13.33	Mapped by Literature SNP
CACNA1C	calcium channel, voltage-dependent, L type, alpha 1C subunit	12p13.3	20(17/3/0)

SNPs in LD with rs2283291 (count: 34) View in gBrowse (chr12:2183524..2229692 )

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]
rs11062156	intron_variant	0.843[CEU]
rs12422554	intron_variant	0.849[CEU]
rs10848627	intron_variant	0.844[CEU]
rs4765902	intron_variant	0.843[CEU]
rs10848629	intron_variant	0.849[CEU]
rs2238053	intron_variant	0.843[CEU]
rs2238046	intron_variant	0.885[CEU]
rs4765670	intron_variant	0.843[CEU]
rs2239018	intron_variant	0.849[CEU]
rs758173	intron_variant	0.843[CEU]
rs10848636	intron_variant	0.843[CEU]
rs7957545	downstream_gene_variant; intron_variant	0.849[CEU]
rs2238048	intron_variant	0.879[CEU]
rs12423277	intron_variant	0.847[CEU]
rs2283288	intron_variant	0.88[CEU]
rs10459125	intron_variant	0.843[CEU]
rs10744559	intron_variant	0.883[CEU]
rs2283287	intron_variant	0.877[CEU]
rs2238056	downstream_gene_variant; intron_variant; upstream_gene_variant	0.847[CEU]
rs11062145	intron_variant	0.885[CEU]
rs10848634	intron_variant	0.843[CEU]
rs10774030	intron_variant	0.88[CEU]
rs10848633	intron_variant	0.843[CEU]
rs10848628	intron_variant	0.843[CEU]
rs2238050	intron_variant	0.849[CEU]
rs2239019	intron_variant	0.849[CEU]
rs10774033	intron_variant	0.828[CEU]
rs1860056	intron_variant	0.853[CEU]
rs758171	intron_variant	0.885[CEU]
rs2238054	intron_variant	0.843[CEU]
rs10848632	intron_variant	0.843[CEU]
rs6489353	intron_variant	0.885[CEU]
rs758174	intron_variant	0.84[CEU]
rs2238052	intron_variant	0.835[CEU]

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

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