SNP Report

Basic Info

Name	rs10848635 dbSNP Ensembl
Location	chr12:2207029 - 2207029(1)
Variant Alleles	T/A
Ancestral Allele	A
Minor Allele	A
Minor Allele Frequence	0.329473
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, LRG_334t1, LRG_334t2, LRG_334t3, LRG_334t4)
No. of Studies	1 (Positive: 1; Negative: 0; 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
Jan, W. C., 2014	T/A		OR=1.85, 95%CI=0.96-3.57, P-value=0.06 for BD-I; OR=2.69, 95...... OR=1.85, 95%CI=0.96-3.57, P-value=0.06 for BD-I; OR=2.69, 95%CI=1.26-5.76, P-value=0.01 for BD-II. P-value = 0.170 for combined analysis. More...	Homozygous of minor allele of rs10848635 in CACNA1C had an i...... Homozygous of minor allele of rs10848635 in CACNA1C had an increased risk for BP-I and BP-II, though only BP-II showed a nominal P-value less than 0.05 (OR=2.69, empirical P=0.069). 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 rs10848635 (count: 36) 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.

Literature-origin SNPs (count: 0)

LD-proxies (count: 36)

rs_ID	Functional Annotation	r²[population]
rs2238049	intron_variant	0.805[CHB]; 0.948[JPT]
rs10459125	intron_variant	1.0[CHB]; 0.975[CHD]; 1.0[JPT]
rs2238052	intron_variant	0.805[CHB]; 0.924[CHD]; 0.948[JPT]
rs1860056	intron_variant	0.905[CHB]; 0.851[JPT]
rs2283288	intron_variant	0.951[CHB]; 0.975[CHD]; 1.0[JPT]
rs2239020	intron_variant	0.947[CHB]; 0.892[JPT]
rs10774033	intron_variant	1.0[CHB]; 1.0[JPT]
rs758174	intron_variant	1.0[CHB]; 1.0[JPT]
rs10848633	intron_variant	1.0[CHB]; 0.975[CHD]; 1.0[JPT]
rs4765902	intron_variant	1.0[CHB]; 0.975[CHD]; 1.0[JPT]
rs10848636	intron_variant	1.0[CHB]; 0.975[CHD]; 1.0[JPT]
rs6489353	intron_variant	1.0[CHB]; 0.943[JPT]
rs2239023	intron_variant	1.0[CHB]; 1.0[JPT]
rs10848632	intron_variant	1.0[CHB]; 0.974[CHD]; 1.0[JPT]
rs2283287	intron_variant	0.951[CHB]; 0.975[CHD]; 1.0[JPT]
rs12423277	intron_variant	0.951[CHB]; 0.881[CHD]; 0.857[JPT]
rs10774030	intron_variant	0.854[CHB]; 0.806[CHD]; 0.803[JPT]
rs2238054	intron_variant	1.0[CHB]; 0.975[CHD]; 1.0[JPT]
rs10848628	intron_variant	1.0[CHB]; 0.949[CHD]; 1.0[JPT]
rs2238053	intron_variant	1.0[CHB]; 0.974[CHD]; 1.0[JPT]
rs10848629	intron_variant	1.0[CHB]; 1.0[JPT]
rs758171	intron_variant	0.854[CHB]; 0.8[JPT]
rs758173	intron_variant	1.0[CHB]; 1.0[JPT]
rs2238050	intron_variant	0.805[CHB]; 0.948[JPT]
rs11062156	intron_variant	1.0[CHB]; 0.975[CHD]; 1.0[JPT]
rs10744559	intron_variant	0.948[CHB]; 1.0[JPT]
rs4765670	intron_variant	1.0[CHB]; 1.0[JPT]
rs2238056	downstream_gene_variant; intron_variant; upstream_gene_variant	0.951[CHB]; 0.881[CHD]; 0.857[JPT]
rs10848627	intron_variant	1.0[CHB]; 1.0[JPT]
rs2238046	intron_variant	0.95[CHB]; 1.0[JPT]
rs7957545	downstream_gene_variant; intron_variant	1.0[CHB]; 1.0[JPT]
rs2239019	intron_variant	1.0[CHB]; 1.0[JPT]
rs12422554	intron_variant	1.0[CHB]; 1.0[JPT]
rs2239018	intron_variant	0.805[CHB]; 0.948[JPT]
rs2238048	intron_variant	0.946[CHB]; 1.0[JPT]
rs11062145	intron_variant	0.905[CHB]; 1.0[JPT]

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

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