SNP Report

Basic Info

Name	rs7972947 dbSNP Ensembl
Location	chr12:2061267 - 2061267(1)
Variant Alleles	C/A
Ancestral Allele	A
Minor Allele	A
Minor Allele Frequence	0.41853
Functional Annotation	intron_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, ENST00000543114, LRG_334t1, LRG_334t2, LRG_334t3, LRG_334t4)
No. of Studies	1 (Positive: 1; Negative: 0; Trend: 0)
Source	Literature
Overlap with SZ?	YES
Overlap with MDD?	NO

SNP related studies (count: 1)

Reference	Allele Change	Risk Allele	Statistical Values	Author Comments	Result Category
Andreassen OA, 2013			Conditional FDR; SCZ loci given BD: FDR=0.013 for SCZ and BD Conditional FDR; SCZ loci given BD: FDR=0.013 for SCZ and BD	To estimate the number of independent loci, we 'pruned' the ...... To estimate the number of independent loci, we 'pruned' the associated SNPs (removed SNPs with linkage disequilibrium (LD)>0.2), and identified a total of 58 independent loci with a significance threshold of conditional FDR<0.32. More...	Positive

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 rs7972947 (count: 0) View in gBrowse (chr12:2061267..2061267 )

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

Reference	Statistical Result	Description	Result Category
Andreassen OA, 2013	Conditional FDR; SCZ loci given BD: P-value=0.000000532, FDR=0.035, FDR=0.013 for SCZ and BD	To estimate the number of independent loci, we 'pruned' the associated SNPs (removed SNPs with linkage disequilibrium (LD)>0.2), and identified a total of 58 independent loci with a significance threshold of conditional FDR<0.32.	Positive

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